V45V (p.Val45Val) variant of SH2D1A (SH2 domain-containing protein 1A)
V45V (p.Val45Val) in SH2D1A (SH2 domain-containing protein 1A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V45V (p.Val45Val) variant details
- p.Val45Val
- rs1330193938
- gnomAD X-124346777-G-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 7.46
- Population evidence available
- Structural context available
- Literature evidence available