S67C (p.Ser67Cys) variant of IL1R1 (Interleukin-1 receptor type 1)
S67C (p.Ser67Cys) in IL1R1 (Interleukin-1 receptor type 1) 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 0.28 / 1. The record also includes population frequency data and structural context.
S67C (p.Ser67Cys) variant details
- p.Ser67Cys
- NCI-TCGA Cosmic COSV5210
- cosmic curated COSV52106
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.16
- CADD 14.70
- PolyPhen-2 0.14
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available