P79L (p.Pro79Leu) variant of WAS (P42768)
P79L (p.Pro79Leu) in WAS (P42768) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P79L (p.Pro79Leu) variant details
- p.Pro79Leu
- NCI-TCGA Cosmic COSV6499
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.85
- CADD 25.40
- PolyPhen-2 0.67
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available