WAS p.Pro373fs
c.1115dup · VCV4950408
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
WAS-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 10 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.1 | GERP 0.37, phastCons 1 |
| Region caveats | ||
| Repeat context | tandem | (CCCCAC)n simple repeat · ambiguous alignment · confidence, not pathogenicity |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- WAS
- Protein
- p.Pro373fs
- Coding
- c.1115dup
- MANE Select
- NM_000377
- Type
- Duplication
- Location
- chrX:48688838 (GRCh38)
- Structure
- AlphaFold pLDDT 70.84 · 7 PDB
- Residue 373
- the 'disordered' region
Similar variants
- WAS c.464-5_466dup Likely pathogenic ★ same condition
- WAS p.Ala469fs Likely pathogenic ★ same condition
- WAS p.Gly334_Asn335insTer Pathogenic ★ same condition
- WAS p.Pro161fs Likely pathogenic ★ same condition
- WAS p.Pro373= Likely benign ★ same residue
- WAS p.Arg321Ter Pathogenic ★★ same condition
- WAS p.Arg364Ter Pathogenic ★★ same condition
- WAS p.Arg86His Pathogenic ★★ 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/was-p-pro373fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown