PAK3 p.Val367=
c.1101C>T · rs2524192388 · VCV1792478
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,076,762)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.86 | GERP -4.2, phastCons 1 |
| Overall | ||
| CADD | 8.181 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,076,762). 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
- PAK3
- Protein
- p.Val367=
- Coding
- c.1101C>T
- MANE Select
- NM_002578
- dbSNP
- rs2524192388
- Type
- single nucleotide variant
- Location
- chrX:111194409 (GRCh38)
- Structure
- AlphaFold pLDDT 66.31 · 4 PDB
- Residue 367
- the dh domain; an α-helix
Similar variants
- PAK3 p.Arg436Ter Pathogenic/Likely pathogenic ★★ same condition
- PAK3 c.830+6T>A Uncertain significance ★★ same condition
- PAK3 c.276+2659T>C Benign/Likely benign ★★ same condition
- PAK3 p.Ala161= Benign/Likely benign ★★ same condition
- PAK3 p.Asn236Ser Likely benign ★★ same condition
- PAK3 p.Gly4Ser Benign/Likely benign ★★ same condition
- PAK3 p.Leu395= Benign ★★ same condition
- PAK3 p.Ser224Tyr Benign/Likely benign ★★ same condition
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/pak3-p-val367 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown