G128S (p.Gly128Ser) variant of LCAT (P04180)
G128S (p.Gly128Ser) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Norum disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G128S (p.Gly128Ser) variant details
- p.Gly128Ser
- rs199560940
- ClinGen CA8121096
- ClinVar RCV001117248
- ClinVar RCV001856538
- Uncertain significance
- not provided; Cardiovascular phenotype; Norum disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.91
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Norum disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available