S38W (p.Ser38Trp) variant of NLRP1 (Q9C000)
S38W (p.Ser38Trp) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
S38W (p.Ser38Trp) variant details
- p.Ser38Trp
- TOPMed rs1269596817
- gnomAD rs1269596817
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 20.80
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)