V6G (p.Val6Gly) variant of SH2D1A (SH2 domain-containing protein 1A)
V6G (p.Val6Gly) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V6G (p.Val6Gly) variant details
- p.Val6Gly
- ExAC rs755791045
- gnomAD rs755791045
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.89
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available