S9L (p.Ser9Leu) variant of CACNB2 (Q08289)
S9L (p.Ser9Leu) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S9L (p.Ser9Leu) variant details
- p.Ser9Leu
- ExAC rs772164191
- gnomAD rs772164191
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.28
- CADD 26.50
- PolyPhen-2 0.71
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available