I122V (p.Ile122Val) variant of LCAT (P04180)
I122V (p.Ile122Val) 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 0.38 / 1. The record also includes population frequency data and structural context.
I122V (p.Ile122Val) variant details
- p.Ile122Val
- rs2151321143
- ClinGen CA396380938
- ClinVar RCV002452472
- Ensembl rs2151321143
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.24
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 0.57
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available