R8H (p.Arg8His) variant of NLRP1 (Q9C000)
R8H (p.Arg8His) 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 0.13 / 1. The record also includes population frequency data.
R8H (p.Arg8His) variant details
- p.Arg8His
- rs200371400
- ClinGen CA8327662
- cosmic curated COSV52581
- ClinVar RCV002581562
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 9.06
- PolyPhen-2 0.65
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)