A34V (p.Ala34Val) variant of SOCS1 (O15524)
A34V (p.Ala34Val) in SOCS1 (O15524) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- TOPMed rs1019392987
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.01
- CADD 7.90
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.2e-05)
- Structural context available