M404V (p.Met404Val) variant of LCAT (P04180)
M404V (p.Met404Val) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of LCAT deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
M404V (p.Met404Val) variant details
- p.Met404Val
- rs779114194
- ClinGen CA8120867
- ClinVar RCV000782356
- ExAC rs779114194
- Pathogenic
- LCAT deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.54
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Pathogenic (LCAT deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available