A49S (p.Ala49Ser) variant of SOCS1 (O15524)
A49S (p.Ala49Ser) 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 0.25 / 1. The record also includes population frequency data and structural context.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- rs760692169
- ClinGen CA7902310
- ClinVar RCV004464757
- 1000Genomes rs760692169
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.05
- CADD 13.60
- PolyPhen-2 0.08
- SIFT 0.68
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.01)
- Structural context available