S98P (p.Ser98Pro) variant of CACNA1S (Q13698)
S98P (p.Ser98Pro) 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 0.49 / 1. The record also includes published literature and structural context.
S98P (p.Ser98Pro) variant details
- p.Ser98Pro
- rs1196937008
- ClinGen CA344145735
- ClinVar RCV004012481
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- AlphaMissense 0.07
- MetaLR 0.75
- MetaSVM 0.40
- PolyPhen-2 0.00
- SIFT 0.06
- EVE 0.09
- 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)