A17D (p.Ala17Asp) variant of SH2B3 (SH2B adapter protein 3)
A17D (p.Ala17Asp) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A17D (p.Ala17Asp) variant details
- p.Ala17Asp
- ExAC rs748515476
- gnomAD rs748515476
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.07
- CADD 9.11
- PolyPhen-2 0.13
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available