V72V (p.Val72Val) variant of SH2D1A (SH2 domain-containing protein 1A)
V72V (p.Val72Val) in SH2D1A (SH2 domain-containing protein 1A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V72V (p.Val72Val) variant details
- p.Val72Val
- gnomAD X-124370190-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 7.87
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available