D78Y (p.Asp78Tyr) variant of CACNA1S (Q13698)
D78Y (p.Asp78Tyr) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
D78Y (p.Asp78Tyr) variant details
- p.Asp78Tyr
- TOPMed rs1368099409
- gnomAD rs1368099409
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.83
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available