A66V (p.Ala66Val) variant of SH2D1A (SH2 domain-containing protein 1A)
A66V (p.Ala66Val) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
A66V (p.Ala66Val) variant details
- p.Ala66Val
- gnomAD X-124365820-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.64
- MetaLR 0.86
- MetaSVM 0.75
- CADD 23.10
- PolyPhen-2 0.60
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available