R21W (p.Arg21Trp) variant of SOCS1 (O15524)
R21W (p.Arg21Trp) 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 0.35 / 1. The record also includes population frequency data and structural context.
R21W (p.Arg21Trp) variant details
- p.Arg21Trp
- rs759348389
- ClinGen CA7902318
- ClinVar RCV004464761
- ExAC rs759348389
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.06
- CADD 25.60
- PolyPhen-2 0.29
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available