C65Y (p.Cys65Tyr) variant of CACNA1S (Q13698)
C65Y (p.Cys65Tyr) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
C65Y (p.Cys65Tyr) variant details
- p.Cys65Tyr
- TOPMed rs1298264664
- gnomAD rs1298264664
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.93
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available