S7R (p.Ser7Arg) variant of CACNB2 (Q08289)
S7R (p.Ser7Arg) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- rs1307102327
- gnomAD 10-18141192-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 19.70
- Population evidence available
- Structural context available
- Literature evidence available