V40A (p.Val40Ala) variant of SH2D1A (SH2 domain-containing protein 1A)
V40A (p.Val40Ala) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V40A (p.Val40Ala) variant details
- p.Val40Ala
- gnomAD X-124346761-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.15
- MetaLR 0.29
- MetaSVM -0.70
- CADD 20.30
- PolyPhen-2 0.15
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available