M6S (p.Met6Ser) variant of CACNB2 (Q08289)
M6S (p.Met6Ser) in CACNB2 (Q08289) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
M6S (p.Met6Ser) variant details
- p.Met6Ser
- rs786205787
- gnomAD 10-18140752-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available