A22T (p.Ala22Thr) variant of SH2B3 (SH2B adapter protein 3)
A22T (p.Ala22Thr) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- ExAC rs775611726
- gnomAD rs775611726
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0876
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.04
- CADD 4.95
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available