S99R (p.Ser99Arg) variant of NLRP1 (Q9C000)
S99R (p.Ser99Arg) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
S99R (p.Ser99Arg) variant details
- p.Ser99Arg
- ExAC rs750620188
- TOPMed rs750620188
- gnomAD rs750620188
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- CADD 15.50
- PolyPhen-2 0.50
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)