P42L (p.Pro42Leu) variant of NLRP1 (Q9C000)
P42L (p.Pro42Leu) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- rs1430167977
- ClinGen CA397391140
- ClinVar RCV003060673
- TOPMed rs1430167977
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0844
- CADD 2.13
- PolyPhen-2 0.01
- SIFT 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)