A97E (p.Ala97Glu) variant of CASK (O14936)
A97E (p.Ala97Glu) in CASK (O14936) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A97E (p.Ala97Glu) variant details
- p.Ala97Glu
- rs2068673777
- ClinGen CA413003115
- ClinVar RCV001267216
- Ensembl rs2068673777
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.34
- CADD 22.50
- PolyPhen-2 0.51
- SIFT 0.51
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)