W120C (p.Trp120Cys) variant of NLRP1 (Q9C000)
W120C (p.Trp120Cys) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
W120C (p.Trp120Cys) variant details
- p.Trp120Cys
- gnomAD rs1426999385
- Missense
- Variant Prioritization Score for Impact Estimate 0.07
- CADD 2.02
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the South Asian population (allele frequency 0.00021)