R8S (p.Arg8Ser) variant of NLRP1 (Q9C000)
R8S (p.Arg8Ser) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- rs771011373
- ClinGen CA397391363
- ClinVar RCV002639616
- gnomAD rs771011373
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 9.57
- PolyPhen-2 0.25
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)