W85R (p.Trp85Arg) variant of LCAT (P04180)
W85R (p.Trp85Arg) 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 0.73 / 1. The record also includes population frequency data and structural context.
W85R (p.Trp85Arg) variant details
- p.Trp85Arg
- ExAC rs758245988
- TOPMed rs758245988
- gnomAD rs758245988
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.82
- CADD 24.30
- PolyPhen-2 0.19
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available