R22Q (p.Arg22Gln) variant of SOCS1 (O15524)
R22Q (p.Arg22Gln) 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 0.32 / 1. The record also includes population frequency data and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- ExAC rs751378699
- TOPMed rs751378699
- gnomAD rs751378699
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.09
- CADD 22.90
- PolyPhen-2 0.16
- SIFT 0.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in AISIMD)
- UniProt: Uncertain significance (in AISIMD)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0014)
- Structural context available