A115S (p.Ala115Ser) variant of NLRP1 (Q9C000)
A115S (p.Ala115Ser) 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 0.07 / 1. The record also includes population frequency data.
A115S (p.Ala115Ser) variant details
- p.Ala115Ser
- ESP rs200012608
- ExAC rs200012608
- TOPMed rs200012608
- gnomAD rs200012608
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0691
- CADD 1.52
- PolyPhen-2 0.14
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)