V29M (p.Val29Met) variant of CACNB2 (Q08289)
V29M (p.Val29Met) in CACNB2 (Q08289) 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 0.25 / 1. The record also includes population frequency data and structural context.
V29M (p.Val29Met) variant details
- p.Val29Met
- rs750972281
- ExAC rs750972281
- TOPMed rs750972281
- gnomAD rs750972281
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.12
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available