S109R (p.Ser109Arg) variant of NLRP1 (Q9C000)
S109R (p.Ser109Arg) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
S109R (p.Ser109Arg) variant details
- p.Ser109Arg
- TOPMed rs1905835118
- gnomAD rs1905835118
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 15.40
- PolyPhen-2 0.19
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)