A38V (p.Ala38Val) variant of SH2B3 (SH2B adapter protein 3)
A38V (p.Ala38Val) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- gnomAD 12-111418258-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.60
- MetaLR 0.43
- MetaSVM -0.03
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available