V49I (p.Val49Ile) variant of LCAT (P04180)
V49I (p.Val49Ile) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fish-eye disease; Norum disease; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- rs1417533036
- ClinGen CA396382465
- NCI-TCGA Cosmic COSV5045
- ClinVar RCV004522814
- Uncertain significance
- Fish-eye disease; Norum disease; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.35
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Fish-eye disease; Norum disease; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available