Q19K (p.Gln19Lys) variant of CACNB2 (Q08289)
Q19K (p.Gln19Lys) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q19K (p.Gln19Lys) variant details
- p.Gln19Lys
- gnomAD 10-18140791-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.11
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available