G5C (p.Gly5Cys) variant of IL7R (P16871)
G5C (p.Gly5Cys) in IL7R (P16871) 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 0.30 / 1. The record also includes population frequency data and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- rs1374760636
- NCI-TCGA Cosmic COSV5741
- cosmic curated COSV57411
- gnomAD rs1374760636
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.32
- CADD 19.90
- PolyPhen-2 0.39
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available