A20V (p.Ala20Val) variant of SH2B3 (SH2B adapter protein 3)
A20V (p.Ala20Val) 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 0.15 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- TOPMed rs1222585515
- gnomAD rs1222585515
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.02
- CADD 12.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available