S98A (p.Ser98Ala) variant of CACNA1S (Q13698)
S98A (p.Ser98Ala) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S98A (p.Ser98Ala) variant details
- p.Ser98Ala
- rs1196937008
- ClinGen CA344145729
- ClinVar RCV003208978
- TOPMed rs1196937008
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.39
- AlphaMissense 0.07
- MetaLR 0.75
- MetaSVM 0.40
- CADD 21.50
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)