I51V (p.Ile51Val) variant of SH2D1A (SH2 domain-containing protein 1A)
I51V (p.Ile51Val) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I51V (p.Ile51Val) variant details
- p.Ile51Val
- gnomAD X-124365774-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.22
- MetaLR 0.15
- MetaSVM -0.83
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available