R76L (p.Arg76Leu) variant of LCAT (P04180)
R76L (p.Arg76Leu) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R76L (p.Arg76Leu) variant details
- p.Arg76Leu
- ExAC rs756625482
- TOPMed rs756625482
- gnomAD rs756625482
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.60
- CADD 23.70
- PolyPhen-2 0.33
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available