A12V (p.Ala12Val) variant of SOCS1 (O15524)
A12V (p.Ala12Val) in SOCS1 (O15524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- Ensembl rs2141125500
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.05
- CADD 24.70
- PolyPhen-2 0.77
- SIFT 0.23
- Population evidence available
- Structural context available