A31V (p.Ala31Val) variant of IL6R (P08887)
A31V (p.Ala31Val) in IL6R (P08887) 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 0.10 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs868345266
- NCI-TCGA Cosmic COSV5981
- cosmic curated COSV59815
- gnomAD rs868345266
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0991
- REVEL 0.03
- CADD 1.08
- PolyPhen-2 0.00
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available