S107F (p.Ser107Phe) variant of NLRP1 (Q9C000)
S107F (p.Ser107Phe) 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 0.22 / 1. The record also includes population frequency data.
S107F (p.Ser107Phe) variant details
- p.Ser107Phe
- rs200126507
- ClinGen CA8327603
- ClinVar RCV001946536
- ExAC rs200126507
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00012)