Is AR p.Arg630Trp (c.1888C>T) pathogenic?

AR p.Arg630Trp (c.1888C>T) is classified Likely pathogenic in AR (ClinVar, Single submitter, 1 submitter; last evaluated 2015-06-04). AlphaMissense: likely pathogenic (0.9977); No allele count reported in gnomAD v4.1 (AN 1,188,042).

How common is AR p.Arg630Trp (c.1888C>T) in the general population?

AR p.Arg630Trp (c.1888C>T) is no allele count reported in gnomAD v4.1 (AN 1,188,042) (gnomAD).

What do computational predictors say about AR p.Arg630Trp (c.1888C>T)?

AlphaMissense predicts likely pathogenic (score 0.9977) — an in-silico prediction, not a clinical call.

AR p.Arg630Trp

c.1888C>T · rs1085307962 · VCV427107

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.9977 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,188,042)

Missense predictors

3/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.9977	likely pathogenic ✓ concordant with ClinVar · top 9% in AR
REVEL	0.962	strongly pathogenic-leaning
SaProt	LLR -13.13	damaging
⇒ AlphaMissense, REVEL and SaProt all call this damaging.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.6	GERP 1.7, phastCons 1
Overall
CADD	28.3	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,188,042). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: AR
Protein: p.Arg630Trp
Coding: c.1888C>T
MANE Select: NM_000044
dbSNP: rs1085307962
Type: single nucleotide variant
Location: chrX:67711404 (GRCh38)
Structure: AlphaFold pLDDT 58.85 · 95 PDB
Residue 630: the 'interaction with hipk3' region; a UniProt-annotated variant site (in prostate cancer); the 'interaction with ccar1' region; the 'interaction with kat7' region; a DNA-binding region; the 'interaction with lpxn' region

Full AR gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

AR p.Arg630= Likely benign ★★ same residue
AR p.Arg630Gln Uncertain significance ★ ⚠ same residue
AR p.Arg630fs Pathogenic same residue
AR c.1768+2T>C Pathogenic/Likely pathogenic ★★ same type
AR c.1769-11T>A Pathogenic ★★ same type
AR c.2450-6C>G Pathogenic ★★ same type
AR p.Ala588Pro Pathogenic/Likely pathogenic ★★ same type
AR p.Ala597Thr Pathogenic ★★ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ar-p-arg630trp (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown