V40V (p.Val40Val) variant of SH2D1A (SH2 domain-containing protein 1A)
V40V (p.Val40Val) in SH2D1A (SH2 domain-containing protein 1A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V40V (p.Val40Val) variant details
- p.Val40Val
- rs1488638073
- gnomAD X-124346762-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 14.90
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available