Q121H (p.Gln121His) variant of LCAT (P04180)
Q121H (p.Gln121His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q121H (p.Gln121His) variant details
- p.Gln121His
- rs1472608950
- ClinGen CA396380947
- ClinVar RCV004412405
- TOPMed rs1472608950
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.34
- AlphaMissense 0.92
- MetaLR 0.13
- MetaSVM -0.99
- CADD 21.10
- PolyPhen-2 0.52
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available