N64S (p.Asn64Ser) variant of CACNA1S (Q13698)
N64S (p.Asn64Ser) 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 0.69 / 1. The record also includes population frequency data and structural context.
N64S (p.Asn64Ser) variant details
- p.Asn64Ser
- ExAC rs773106413
- gnomAD rs773106413
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.71
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available