S2R (p.Ser2Arg) variant of WAS (P42768)
S2R (p.Ser2Arg) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- gnomAD X-48683859-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.52
- CADD 22.10
- PolyPhen-2 0.44
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available