A14V (p.Ala14Val) variant of CACNB2 (Q08289)
A14V (p.Ala14Val) in CACNB2 (Q08289) is a missense change. 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.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- Ensembl rs2030294364
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.25
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available