C21Y (p.Cys21Tyr) variant of CNTNAP2 (Q9UHC6)
C21Y (p.Cys21Tyr) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Cortical dysplasia-focal epilepsy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
C21Y (p.Cys21Tyr) variant details
- p.Cys21Tyr
- rs1341597305
- ClinGen CA369922097
- ClinVar RCV002028724
- ClinVar RCV002657716
- Uncertain significance
- Inborn genetic diseases; Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.29
- CADD 9.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Cortical dysplasia-focal epilepsy syndr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- 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)