Is UNC80 p.Arg360Pro (c.1079G>C) pathogenic?

UNC80 p.Arg360Pro (c.1079G>C) is classified Uncertain significance in UNC80 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-11-19). AlphaMissense: likely pathogenic (0.985); Absent from gnomAD v4.1.

How common is UNC80 p.Arg360Pro (c.1079G>C) in the general population?

UNC80 p.Arg360Pro (c.1079G>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about UNC80 p.Arg360Pro (c.1079G>C)?

AlphaMissense predicts likely pathogenic (score 0.985) — an in-silico prediction, not a clinical call.

UNC80 p.Arg360Pro

c.1079G>C · rs532329476 · VCV1352552

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.985 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
AlphaMissense	0.985	likely pathogenic
REVEL	0.548	indeterminate
SaProt	—	not scored · why
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 12	GERP 1.7, phastCons 1
Regional constraint	o/e 0.91	unconstrained · MANE · 57 kb · p 0.0051 · regional, not allelic
Overall
CADD	28.2	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL is an independent agreement signal.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: UNC80
Protein: p.Arg360Pro
Coding: c.1079G>C
MANE Select: NM_001371986
dbSNP: rs532329476
Type: single nucleotide variant
Location: chr2:209813720 (GRCh38)
Gene constraint: LOEUF 0.48 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Residue 360: an α-helix

Full UNC80 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

UNC80 p.Arg360Ter Pathogenic/Likely pathogenic ★★ same residue
UNC80 p.Arg360Gln Uncertain significance ★ ⚠ same residue
UNC80 p.Arg360Leu Conflicting classifications of pathogenicity ★ same residue
UNC80 p.Arg360= Likely benign ★ same residue
UNC80 c.4110+1G>C Pathogenic/Likely pathogenic ★★ same type
UNC80 c.7287-1G>A Likely pathogenic ★★ same type
UNC80 c.8772+1G>A Likely pathogenic ★★ same type
UNC80 p.Arg1069Ter 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/unc80-p-arg360pro (accessed [today's date]).

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