R29Q (p.Arg29Gln) variant of CACNA1S (Q13698)
R29Q (p.Arg29Gln) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R29Q (p.Arg29Gln) variant details
- p.Arg29Gln
- rs758594181
- ClinGen CA084025
- NCI-TCGA Cosmic COSV6293
- cosmic curated COSV62935
- Conflicting interpretations
- not provided; Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.43
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Malignant hyperthermia, susceptibility to, 5; Hypo)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)