A20E (p.Ala20Glu) variant of SH2B3 (SH2B adapter protein 3)
A20E (p.Ala20Glu) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar, EBI, 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 0.14 / 1. The record also includes population frequency data and structural context.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- TOPMed rs1222585515
- gnomAD rs1222585515
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.05
- MetaSVM -1.00
- CADD 11.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available