P31L (p.Pro31Leu) variant of CACNB2 (Q08289)
P31L (p.Pro31Leu) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- gnomAD 10-18140828-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.26
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available