R29W (p.Arg29Trp) variant of CACNA1S (Q13698)
R29W (p.Arg29Trp) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R29W (p.Arg29Trp) variant details
- p.Arg29Trp
- rs577022740
- ClinGen CA084021
- cosmic curated COSV62937
- ClinVar RCV001367207
- Conflicting interpretations
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.53
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- 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)