L35I (p.Leu35Ile) variant of CACNB2 (Q08289)
L35I (p.Leu35Ile) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L35I (p.Leu35Ile) variant details
- p.Leu35Ile
- gnomAD 10-18140839-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.21
- CADD 21.50
- PolyPhen-2 0.16
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available