P75L (p.Pro75Leu) variant of CACNA1S (Q13698)
P75L (p.Pro75Leu) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myopathy 18; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- rs779684649
- ClinGen CA078901
- cosmic curated COSV62943
- ClinVar RCV000806923
- Uncertain significance
- Congenital myopathy 18; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.86
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital myopathy 18; Malignant hyperthermia, susceptibility t)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Hypokalemic Periodic Paralysis. (PMID 20301512)