V2F (p.Val2Phe) variant of CACNB2 (Q08289)
V2F (p.Val2Phe) in CACNB2 (Q08289) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V2F (p.Val2Phe) variant details
- p.Val2Phe
- ExAC rs780368829
- TOPMed rs780368829
- gnomAD rs780368829
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.47
- CADD 25.10
- PolyPhen-2 0.78
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available