I13V (p.Ile13Val) variant of CAV3 (Caveolin-3)
I13V (p.Ile13Val) in CAV3 (Caveolin-3) 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 0.44 / 1. The record also includes population frequency data and structural context.
I13V (p.Ile13Val) variant details
- p.Ile13Val
- rs796052171
- ClinGen CA351661300
- ClinVar RCV003177587
- ClinVar RCV003906666
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.62
- MetaSVM 0.02
- CADD 21.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available