R47W (p.Arg47Trp) variant of LCAT (P04180)
R47W (p.Arg47Trp) in LCAT (P04180) is a missense change. Clinical records from ClinVar 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 0.51 / 1. The record also includes population frequency data and structural context.
R47W (p.Arg47Trp) variant details
- p.Arg47Trp
- gnomAD rs1172331185
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.63
- CADD 24.40
- PolyPhen-2 0.62
- SIFT 0.19
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available