W16C (p.Trp16Cys) variant of CNTNAP2 (Q9UHC6)
W16C (p.Trp16Cys) 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; not provided; Cortical dysplasia-focal epilepsy syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
W16C (p.Trp16Cys) variant details
- p.Trp16Cys
- rs886044073
- ClinGen CA10606315
- ClinVar RCV000726271
- ClinVar RCV001232345
- Uncertain significance
- Inborn genetic diseases; not provided; Cortical dysplasia-focal epilepsy syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.47
- CADD 23.90
- PolyPhen-2 0.21
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Cortical dysplasia-focal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-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)