K39M (p.Lys39Met) variant of LCAT (P04180)
K39M (p.Lys39Met) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Norum disease; Fish-eye disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
K39M (p.Lys39Met) variant details
- p.Lys39Met
- Ensembl rs2058312868
- Uncertain significance
- Norum disease; Fish-eye disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.45
- AlphaMissense 0.26
- MetaLR 0.87
- MetaSVM 0.88
- CADD 24.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Norum disease; Fish-eye disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available