P100L (p.Pro100Leu) variant of NLRP1 (Q9C000)
P100L (p.Pro100Leu) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
P100L (p.Pro100Leu) variant details
- p.Pro100Leu
- TOPMed rs1905840004
- gnomAD rs1905840004
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 4.18
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 3e-05)