G5S (p.Gly5Ser) variant of LCAT (P04180)
G5S (p.Gly5Ser) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Fish-eye disease; Norum disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- rs1394758775
- ClinGen CA396383075
- ClinVar RCV002676247
- ClinVar RCV004066859
- Uncertain significance
- Cardiovascular phenotype; Fish-eye disease; Norum disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.26
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Cardiovascular phenotype; Fish-eye disease; Norum disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-05)
- Structural context available