S14A (p.Ser14Ala) variant of SOCS1 (O15524)
S14A (p.Ser14Ala) in SOCS1 (O15524) is a missense change. Clinical records from ClinVar, EBI, 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 0.21 / 1. The record also includes population frequency data and structural context.
S14A (p.Ser14Ala) variant details
- p.Ser14Ala
- rs778594186
- ClinGen CA7902325
- ClinVar RCV004109494
- ExAC rs778594186
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.04
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available