V75M (p.Val75Met) variant of WAS (P42768)
V75M (p.Val75Met) in WAS (P42768) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in THC1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V75M (p.Val75Met) variant details
- p.Val75Met
- rs782290433
- ClinGen CA10403870
- ClinVar RCV000255132
- ClinVar RCV000589566
- Pathogenic
- in THC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.95
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in THC1)
- UniProt: Pathogenic (in THC1)
- Most common in the 1KG:GWD population (allele frequency 0.0058)
- Structural context available
- Cited in: Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and… (PMID 10447259)
- Cited in: Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals… (PMID 8528198)