V56M (p.Val56Met) variant of SH2D1A (SH2 domain-containing protein 1A)
V56M (p.Val56Met) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V56M (p.Val56Met) variant details
- p.Val56Met
- gnomAD X-124365789-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.81
- MetaLR 0.96
- MetaSVM 1.11
- CADD 24.90
- PolyPhen-2 0.72
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available