V2I (p.Val2Ile) variant of CACNB2 (Q08289)
V2I (p.Val2Ile) in CACNB2 (Q08289) 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 0.36 / 1. The record also includes population frequency data and structural context.
V2I (p.Val2Ile) variant details
- p.Val2Ile
- rs780368829
- ClinGen CA376213744
- ClinVar RCV004432354
- ExAC rs780368829
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.13
- CADD 23.00
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available