Is DHX32 p.Val95Phe (c.283G>T) pathogenic?

DHX32 p.Val95Phe (c.283G>T) is classified Uncertain significance in DHX32 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-12-12). AlphaMissense: likely pathogenic (0.6003); Absent from gnomAD v4.1.

How common is DHX32 p.Val95Phe (c.283G>T) in the general population?

DHX32 p.Val95Phe (c.283G>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about DHX32 p.Val95Phe (c.283G>T)?

AlphaMissense predicts likely pathogenic (score 0.6003) — an in-silico prediction, not a clinical call.

DHX32 p.Val95Phe

c.283G>T · VCV3682037

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.6003 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/2 damaging

AlphaMissense, SaProt · REVEL no call

Computational evidence

Protein change
AlphaMissense	0.6003	likely pathogenic
REVEL	0.291	indeterminate
SaProt	LLR -8.45	tolerated
⇒ AlphaMissense calls this damaging; SaProt does not; REVEL makes no call.
Splicing
SpliceAI	Δ0.35	acceptor gain · deltas
Constraint at this position
Conservation	phyloP 5.9	GERP 1.8, phastCons 1
Regional constraint	o/e 0.83	unconstrained · MANE · 28 kb · p 0.00028 · regional, not allelic
Overall
CADD	34.0	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

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: DHX32
Protein: p.Val95Phe
Coding: c.283G>T
MANE Select: NM_018180
Type: single nucleotide variant
Location: chr10:125867183 (GRCh38)
Gene constraint: LOEUF 0.919 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.34
Residue 95: the helicase atp-binding domain

Full DHX32 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DHX32 p.Val95Leu Uncertain significance ★ ⚠ same residue
DHX32 p.Ala251Val Uncertain significance ★★ ⚠ same type
DHX32 p.Ala93Thr Uncertain significance ★★ ⚠ same type
DHX32 p.Arg129Gln Uncertain significance ★★ ⚠ same type
DHX32 p.Arg261Cys Uncertain significance ★★ ⚠ same type
DHX32 p.Arg261His Uncertain significance ★★ ⚠ same type
DHX32 p.Asn239Lys Uncertain significance ★★ ⚠ same type
DHX32 p.Asn297His Uncertain significance ★★ ⚠ 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/dhx32-p-val95phe (accessed [today's date]).

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