V48A (p.Val48Ala) variant of CACNA1S (Q13698)
V48A (p.Val48Ala) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital myopathy 18; Hypokalemic periodic paralysis, type 1; Malignant hypert. 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.
V48A (p.Val48Ala) variant details
- p.Val48Ala
- rs977298165
- ClinGen CA36018215
- ClinVar RCV001054284
- ClinVar RCV003455242
- Conflicting interpretations
- Congenital myopathy 18; Hypokalemic periodic paralysis, type 1; Malignant hypert
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.54
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital myopathy 18; Hypokalemic periodic paralysis, type 1;)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- 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)