A22P (p.Ala22Pro) variant of SH2B3 (SH2B adapter protein 3)
A22P (p.Ala22Pro) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- ExAC rs775611726
- gnomAD rs775611726
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.06
- MetaLR 0.02
- MetaSVM -0.96
- CADD 7.12
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available