R76H (p.Arg76His) variant of LCAT (P04180)
R76H (p.Arg76His) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fish-eye disease; Norum disease; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R76H (p.Arg76His) variant details
- p.Arg76His
- rs756625482
- ClinGen CA8121141
- ClinVar RCV002446065
- ClinVar RCV005019199
- Uncertain significance
- Fish-eye disease; Norum disease; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.57
- CADD 25.50
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (Fish-eye disease; Norum disease; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available