A22V (p.Ala22Val) variant of SH2D1A (SH2 domain-containing protein 1A)
A22V (p.Ala22Val) in SH2D1A (SH2 domain-containing protein 1A) 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.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- gnomAD X-124346707-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.37
- MetaLR 0.54
- MetaSVM 0.23
- CADD 20.00
- PolyPhen-2 0.09
- SIFT 0.18
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available