R65W (p.Arg65Trp) variant of NLRP1 (Q9C000)
R65W (p.Arg65Trp) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
R65W (p.Arg65Trp) variant details
- p.Arg65Trp
- TOPMed rs1369797155
- gnomAD rs1369797155
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 23.20
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.8e-05)