S7I (p.Ser7Ile) variant of CACNB2 (Q08289)
S7I (p.Ser7Ile) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S7I (p.Ser7Ile) variant details
- p.Ser7Ile
- gnomAD 10-18141193-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 19.60
- Population evidence available
- Structural context available
- Literature evidence available