P42H (p.Pro42His) variant of NLRP1 (Q9C000)
P42H (p.Pro42His) 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 0.09 / 1. The record also includes population frequency data.
P42H (p.Pro42His) variant details
- p.Pro42His
- TOPMed rs1430167977
- gnomAD rs1430167977
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0858
- CADD 3.90
- PolyPhen-2 0.02
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available