Q19R (p.Gln19Arg) variant of CACNB2 (Q08289)
Q19R (p.Gln19Arg) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q19R (p.Gln19Arg) variant details
- p.Gln19Arg
- gnomAD 10-18140792-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.19
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available