K88E (p.Lys88Glu) variant of CACNA1S (Q13698)
K88E (p.Lys88Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
K88E (p.Lys88Glu) variant details
- p.Lys88Glu
- rs140330831
- ClinGen CA079143
- ClinVar RCV000651220
- ClinVar RCV000729718
- Conflicting interpretations
- Inborn genetic diseases; Hypokalemic periodic paralysis, type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.56
- CADD 24.30
- PolyPhen-2 0.34
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Hypokalemic periodic paralysis, type 1;)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish 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)