A14V (p.Ala14Val) variant of SH2B3 (SH2B adapter protein 3)
A14V (p.Ala14Val) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- ExAC rs201886863
- TOPMed rs201886863
- gnomAD rs201886863
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.09
- MetaLR 0.08
- MetaSVM -1.03
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0029)
- Structural context available