A29S (p.Ala29Ser) variant of NLRP1 (Q9C000)
A29S (p.Ala29Ser) 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.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- TOPMed rs971095282
- gnomAD rs971095282
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.072
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)