P10L (p.Pro10Leu) variant of CACNB2 (Q08289)
P10L (p.Pro10Leu) 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, published literature, and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- gnomAD 10-18140765-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.20
- CADD 23.70
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available