V124I (p.Val124Ile) variant of LCAT (P04180)
V124I (p.Val124Ile) 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 0.62 / 1. The record also includes population frequency data and structural context.
V124I (p.Val124Ile) variant details
- p.Val124Ile
- rs753579128
- ClinGen CA8121097
- ClinVar RCV002349000
- ExAC rs753579128
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.51
- CADD 23.00
- PolyPhen-2 0.97
- SIFT 0.19
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available