N155D (p.Asn155Asp) variant of LCAT (P04180)
N155D (p.Asn155Asp) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fish-eye disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N155D (p.Asn155Asp) variant details
- p.Asn155Asp
- rs121908057
- ClinGen CA116431
- ClinVar RCV000003858
- Ensembl rs121908057
- Pathogenic
- Fish-eye disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.44
- AlphaMissense 0.55
- MetaLR 0.16
- MetaSVM -0.98
- CADD 23.00
- PolyPhen-2 0.01
- ClinVar: Pathogenic (Fish-eye disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A unique genetic and biochemical presentation of fish-eye disease. (PMID 8675648)