A66D (p.Ala66Asp) variant of SH2D1A (SH2 domain-containing protein 1A)
A66D (p.Ala66Asp) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A66D (p.Ala66Asp) variant details
- p.Ala66Asp
- gnomAD X-124365820-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.85
- MetaLR 0.96
- MetaSVM 1.08
- CADD 24.60
- PolyPhen-2 0.85
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available