P16L (p.Pro16Leu) variant of CACNA1S (Q13698)
P16L (p.Pro16Leu) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs768611153
- ClinGen CA083598
- ClinVar RCV002624398
- ClinVar RCV005415658
- Conflicting interpretations
- not provided; Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (not provided; Malignant hyperthermia, susceptibility to, 5; Hypo)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:XIBO population (allele frequency 0.062)
- 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)