L71F (p.Leu71Phe) variant of NLRP1 (Q9C000)
L71F (p.Leu71Phe) 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 0.09 / 1. The record also includes population frequency data.
L71F (p.Leu71Phe) variant details
- p.Leu71Phe
- rs2151832832
- ClinGen CA397390849
- ClinVar RCV002028615
- Ensembl rs2151832832
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0897
- CADD 5.01
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available