I61V (p.Ile61Val) variant of CACNA1S (Q13698)
I61V (p.Ile61Val) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I61V (p.Ile61Val) variant details
- p.Ile61Val
- rs147382463
- ClinGen CA078582
- ClinVar RCV003104780
- ClinVar RCV004725634
- Conflicting interpretations
- not provided; Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.67
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Malignant hyperthermia, susceptibility to, 5; Hypo)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00029)
- 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)