P42S (p.Pro42Ser) variant of NLRP1 (Q9C000)
P42S (p.Pro42Ser) 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 0.07 / 1. The record also includes population frequency data.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- rs200014469
- ClinGen CA8327648
- ClinVar RCV002042387
- ExAC rs200014469
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0727
- CADD 0.12
- PolyPhen-2 0.10
- SIFT 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)