W6R (p.Trp6Arg) variant of NLRP1 (Q9C000)
W6R (p.Trp6Arg) 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 0.09 / 1. The record also includes population frequency data.
W6R (p.Trp6Arg) variant details
- p.Trp6Arg
- rs1451113448
- ClinGen CA397391378
- ClinVar RCV001968831
- TOPMed rs1451113448
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0919
- CADD 4.19
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)