V158M (p.Val158Met) variant of LCAT (P04180)
V158M (p.Val158Met) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fish-eye disease; Norum disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
V158M (p.Val158Met) variant details
- p.Val158Met
- rs761032474
- ClinGen CA8121070
- ClinVar RCV002994864
- ClinVar RCV005019551
- Uncertain significance
- Fish-eye disease; Norum disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.40
- CADD 24.00
- PolyPhen-2 0.78
- SIFT 0.03
- ClinVar: Uncertain significance (Fish-eye disease; Norum disease; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available