M90L (p.Met90Leu) variant of LCAT (P04180)
M90L (p.Met90Leu) 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 0.30 / 1. The record also includes population frequency data and structural context.
M90L (p.Met90Leu) variant details
- p.Met90Leu
- ExAC rs765059218
- gnomAD rs765059218
- Uncertain significance
- Norum disease; Fish-eye disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.27
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Norum disease; Fish-eye disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available