E41G (p.Glu41Gly) variant of LCAT (P04180)
E41G (p.Glu41Gly) 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 0.35 / 1. The record also includes population frequency data and structural context.
E41G (p.Glu41Gly) variant details
- p.Glu41Gly
- Ensembl rs909993407
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.21
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available