S9W (p.Ser9Trp) variant of CACNB2 (Q08289)
S9W (p.Ser9Trp) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S9W (p.Ser9Trp) variant details
- p.Ser9Trp
- ExAC rs772164191
- gnomAD rs772164191
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.48
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available