A38D (p.Ala38Asp) variant of SH2B3 (SH2B adapter protein 3)
A38D (p.Ala38Asp) 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 0.71 / 1. The record also includes population frequency data and structural context.
A38D (p.Ala38Asp) variant details
- p.Ala38Asp
- Ensembl rs2135547124
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.43
- MetaSVM -0.03
- CADD 24.60
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available