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 0.15 / 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 0.152
- REVEL 0.07
- ESM-1b 0.08
- AlphaMissense 0.18
- MetaLR 0.05
- MetaSVM -1.07
- CADD 9.11
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available