P103R (p.Pro103Arg) variant of NLRP1 (Q9C000)
P103R (p.Pro103Arg) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
P103R (p.Pro103Arg) variant details
- p.Pro103Arg
- TOPMed rs1247446949
- gnomAD rs1247446949
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 0.15
- MetaLR 0.35
- MetaSVM -0.75
- CADD 20.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)