R65Q (p.Arg65Gln) variant of NLRP1 (Q9C000)
R65Q (p.Arg65Gln) 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 0.08 / 1. The record also includes population frequency data.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- rs200739115
- ClinGen CA287293426
- cosmic curated COSV10457
- ClinVar RCV002005170
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0789
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00033)