S27F (p.Ser27Phe) variant of SOCS1 (O15524)
S27F (p.Ser27Phe) in SOCS1 (O15524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- rs1249424944
- ClinGen CA394740792
- cosmic curated COSV59659
- ClinVar RCV003426587
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.03
- CADD 25.20
- PolyPhen-2 0.28
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00045)
- Structural context available