G21D (p.Gly21Asp) variant of CASK (O14936)
G21D (p.Gly21Asp) 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; Intellectual disability, CASK-related, X-linked; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes experimental measurements, published literature, and structural context.
G21D (p.Gly21Asp) variant details
- p.Gly21Asp
- rs2071299462
- ClinGen CA413001061
- ClinVar RCV001232847
- ClinVar RCV004601416
- Uncertain significance
- Inborn genetic diseases; Intellectual disability, CASK-related, X-linked; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Uncertain significance (Inborn genetic diseases; Intellectual disability, CASK-related,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.281
- 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)