L4I (p.Leu4Ile) variant of ABCG5 (Q9H222)
L4I (p.Leu4Ile) in ABCG5 (Q9H222) 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 0.31 / 1. The record also includes population frequency data and structural context.
L4I (p.Leu4Ile) variant details
- p.Leu4Ile
- rs751275236
- ClinGen CA1636823
- NCI-TCGA Cosmic COSV5321
- cosmic curated COSV53211
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available