P39S (p.Pro39Ser) variant of CACNA1S (Q13698)
P39S (p.Pro39Ser) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- rs749891107
- ClinGen CA344157857
- ClinVar RCV004012357
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.69
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)