V7M (p.Val7Met) variant of APOA5 (Apolipoprotein A-V)
V7M (p.Val7Met) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from ClinVar 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 0.14 / 1. The record also includes population frequency data and structural context.
V7M (p.Val7Met) variant details
- p.Val7Met
- NCI-TCGA Cosmic COSV5706
- cosmic curated COSV57063
- TOPMed rs1941019994
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.18
- CADD 3.83
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available