A22D (p.Ala22Asp) variant of SH2B3 (SH2B adapter protein 3)
A22D (p.Ala22Asp) 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 0.16 / 1. The record also includes population frequency data and structural context.
A22D (p.Ala22Asp) variant details
- p.Ala22Asp
- Ensembl rs2135546861
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.02
- ESM-1b 0.59
- AlphaMissense 0.18
- MetaLR 0.05
- MetaSVM -1.03
- CADD 2.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available