V114L (p.Val114Leu) variant of LCAT (P04180)
V114L (p.Val114Leu) 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 0.28 / 1. The record also includes population frequency data and structural context.
V114L (p.Val114Leu) variant details
- p.Val114Leu
- 1000Genomes rs35673026
- ESP rs35673026
- ExAC rs35673026
- TOPMed rs35673026
- Uncertain significance
- Norum disease; Fish-eye disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.30
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Norum disease; Fish-eye disease)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available