G3A (p.Gly3Ala) variant of WAS (P42768)
G3A (p.Gly3Ala) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G3A (p.Gly3Ala) variant details
- p.Gly3Ala
- gnomAD X-48683861-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.53
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available