V120A (p.Val120Ala) variant of LCAT (P04180)
V120A (p.Val120Ala) 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 0.77 / 1. The record also includes population frequency data and structural context.
V120A (p.Val120Ala) variant details
- p.Val120Ala
- rs766209201
- ClinGen CA283163127
- ClinVar RCV004522816
- Ensembl rs766209201
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.86
- CADD 25.70
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available