Q15H (p.Gln15His) variant of CACNA1S (Q13698)
Q15H (p.Gln15His) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Q15H (p.Gln15His) variant details
- p.Gln15His
- gnomAD rs1412221314
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.43
- CADD 23.60
- PolyPhen-2 0.62
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available