K8Q (p.Lys8Gln) variant of CACNB2 (Q08289)
K8Q (p.Lys8Gln) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K8Q (p.Lys8Gln) variant details
- p.Lys8Gln
- gnomAD 10-18140758-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.27
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available