E9A (p.Glu9Ala) variant of CACNA1S (Q13698)
E9A (p.Glu9Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
E9A (p.Glu9Ala) variant details
- p.Glu9Ala
- rs761386471
- ClinGen CA344158720
- ClinVar RCV004013286
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- AlphaMissense 0.14
- MetaLR 0.84
- MetaSVM 0.11
- PolyPhen-2 0.83
- SIFT 0.37
- MutPred 0.18
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Malignant Hyperthermia Susceptibility. (PMID 20301325)
- Cited in: Consensus guidelines on perioperative management of malignant hyperthermia suspected or susceptible patients from the… (PMID 33131754)