L25V (p.Leu25Val) variant of CACNB2 (Q08289)
L25V (p.Leu25Val) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L25V (p.Leu25Val) variant details
- p.Leu25Val
- ExAC rs775097809
- gnomAD rs775097809
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.20
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available