A16S (p.Ala16Ser) variant of SOCS1 (O15524)
A16S (p.Ala16Ser) in SOCS1 (O15524) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- cosmic curated COSV59661
- 1000Genomes rs537872317
- ExAC rs537872317
- TOPMed rs537872317
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.03
- CADD 18.20
- PolyPhen-2 0.04
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available