P25S (p.Pro25Ser) variant of SOCS1 (O15524)
P25S (p.Pro25Ser) 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 0.13 / 1. The record also includes population frequency data and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- rs765434194
- NCI-TCGA Cosmic COSV5965
- cosmic curated COSV59658
- ExAC rs765434194
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.07
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available