R8C (p.Arg8Cys) variant of IL1RN (P18510)
R8C (p.Arg8Cys) in IL1RN (P18510) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data and structural context.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- cosmic curated COSV52082
- ESP rs372736558
- ExAC rs372736558
- TOPMed rs372736558
- Missense
- Variant Prioritization Score for Impact Estimate 0.028
- REVEL 0.01
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available