R4G (p.Arg4Gly) variant of CACNB2 (Q08289)
R4G (p.Arg4Gly) in CACNB2 (Q08289) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- rs776609335
- gnomAD 10-18140743-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available