L56P (p.Leu56Pro) variant of LCAT (P04180)
L56P (p.Leu56Pro) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Decreased circulating HDL-C concentration; Fish-eye disease. 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.
L56P (p.Leu56Pro) variant details
- p.Leu56Pro
- ExAC rs762600330
- TOPMed rs762600330
- gnomAD rs762600330
- Conflicting interpretations
- not provided; Decreased circulating HDL-C concentration; Fish-eye disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.78
- CADD 28.40
- PolyPhen-2 0.58
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Decreased circulating HDL-C concentration; Fish-ey)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available