R8C (p.Arg8Cys) variant of NLRP1 (Q9C000)
R8C (p.Arg8Cys) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- rs771011373
- ClinGen CA287293763
- ClinVar RCV003670393
- gnomAD rs771011373
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 21.40
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)