A21V (p.Ala21Val) variant of SH2B3 (SH2B adapter protein 3)
A21V (p.Ala21Val) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- ExAC rs759666349
- gnomAD rs759666349
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -0.98
- CADD 13.30
- PolyPhen-2 0.77
- SIFT 0.38
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)
- Structural context available