A34T (p.Ala34Thr) variant of SOCS1 (O15524)
A34T (p.Ala34Thr) in SOCS1 (O15524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- rs1233626909
- ClinGen CA394740755
- ClinVar RCV003222860
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.02
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available