L124F (p.Leu124Phe) variant of NLRP1 (Q9C000)
L124F (p.Leu124Phe) 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 0.18 / 1. The record also includes population frequency data.
L124F (p.Leu124Phe) variant details
- p.Leu124Phe
- rs200978321
- ExAC rs200978321
- TOPMed rs200978321
- gnomAD rs200978321
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 0.10
- PolyPhen-2 0.01
- SIFT 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)