P28S (p.Pro28Ser) variant of CACNA1S (Q13698)
P28S (p.Pro28Ser) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- rs1297380219
- ClinGen CA344158177
- cosmic curated COSV62939
- ClinVar RCV004014974
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.08
- AlphaMissense 0.10
- MetaLR 0.20
- MetaSVM -0.64
- CADD 22.90
- PolyPhen-2 0.38
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)