P42A (p.Pro42Ala) variant of NLRP1 (Q9C000)
P42A (p.Pro42Ala) in NLRP1 (Q9C000) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
P42A (p.Pro42Ala) variant details
- p.Pro42Ala
- ExAC rs200014469
- TOPMed rs200014469
- gnomAD rs200014469
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0725
- CADD 0.04
- PolyPhen-2 0.01
- SIFT 0.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)