G11A (p.Gly11Ala) variant of WAS (P42768)
G11A (p.Gly11Ala) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- gnomAD X-48683885-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.51
- CADD 12.60
- PolyPhen-2 0.07
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available