A5S (p.Ala5Ser) variant of NLRP1 (Q9C000)
A5S (p.Ala5Ser) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar 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 0.13 / 1. The record also includes population frequency data.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- TOPMed rs1357536300
- gnomAD rs1357536300
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 9.92
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)