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 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.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- TOPMed rs1222585515
- gnomAD rs1222585515
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.02
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available