S13C (p.Ser13Cys) variant of IL7R (P16871)
S13C (p.Ser13Cys) 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 0.24 / 1. The record also includes population frequency data and structural context.
S13C (p.Ser13Cys) variant details
- p.Ser13Cys
- NCI-TCGA Cosmic COSV1002
- NCI-TCGA Cosmic COSV5741
- cosmic curated COSV57411
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.20
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available