Q130R (p.Gln130Arg) variant of NLRP1 (Q9C000)
Q130R (p.Gln130Arg) 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 0.10 / 1. The record also includes population frequency data.
Q130R (p.Gln130Arg) variant details
- p.Gln130Arg
- rs150929926
- ClinGen CA8327590
- ClinVar RCV001933377
- 1000Genomes rs150929926
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 5.89
- PolyPhen-2 0.08
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)