V6A (p.Val6Ala) variant of SH2D1A (SH2 domain-containing protein 1A)
V6A (p.Val6Ala) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- gnomAD X-124346659-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.81
- MetaLR 0.95
- MetaSVM 1.09
- CADD 24.70
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available