A49V (p.Ala49Val) variant of SOCS1 (O15524)
A49V (p.Ala49Val) in SOCS1 (O15524) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- rs1156507872
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- TOPMed rs1156507872
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.07
- CADD 19.60
- PolyPhen-2 0.08
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available