V72I (p.Val72Ile) variant of ABCG5 (Q9H222)
V72I (p.Val72Ile) 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 0.18 / 1. The record also includes population frequency data and structural context.
V72I (p.Val72Ile) variant details
- p.Val72Ile
- rs768541576
- ClinGen CA1636747
- NCI-TCGA Cosmic COSV5320
- cosmic curated COSV53209
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 14.00
- PolyPhen-2 0.01
- 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 5.8e-05)
- Structural context available