S7Y (p.Ser7Tyr) variant of CACNB2 (Q08289)
S7Y (p.Ser7Tyr) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S7Y (p.Ser7Tyr) variant details
- p.Ser7Tyr
- ExAC rs779066586
- TOPMed rs779066586
- gnomAD rs779066586
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.22
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available