P28R (p.Pro28Arg) variant of CACNA1S (Q13698)
P28R (p.Pro28Arg) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, 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 0.42 / 1. The record also includes population frequency data and structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- ExAC rs747041937
- gnomAD rs747041937
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.25
- CADD 26.80
- PolyPhen-2 0.47
- SIFT 0.01
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available