A34V (p.Ala34Val) variant of SH2B3 (SH2B adapter protein 3)
A34V (p.Ala34Val) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD 12-111418246-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.73
- MetaLR 0.57
- MetaSVM 0.29
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available