A92T (p.Ala92Thr) variant of WAS (P42768)
A92T (p.Ala92Thr) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A92T (p.Ala92Thr) variant details
- p.Ala92Thr
- gnomAD X-48685547-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.48
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available