S7V (p.Ser7Val) variant of CACNB2 (Q08289)
S7V (p.Ser7Val) 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.
S7V (p.Ser7Val) variant details
- p.Ser7Val
- gnomAD 10-18141187-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 17.00
- Population evidence available
- Structural context available
- Literature evidence available