M6L (p.Met6Leu) variant of CACNB2 (Q08289)
M6L (p.Met6Leu) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
M6L (p.Met6Leu) variant details
- p.Met6Leu
- gnomAD 10-18140752-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.15
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available