G85S (p.Gly85Ser) variant of CACNA1S (Q13698)
G85S (p.Gly85Ser) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Hypokalemic periodic paralysis, type 1; Malignant hyper. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G85S (p.Gly85Ser) variant details
- p.Gly85Ser
- rs369931782
- ClinGen CA079052
- ClinVar RCV000687088
- ClinVar RCV000765033
- Conflicting interpretations
- Inborn genetic diseases; Hypokalemic periodic paralysis, type 1; Malignant hyper
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.31
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.64
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Hypokalemic periodic paralysis, type 1;)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)