L13F (p.Leu13Phe) variant of CNTNAP2 (Q9UHC6)
L13F (p.Leu13Phe) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Cortical dysplasia-focal epilepsy syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- rs796052375
- ClinGen CA314118
- ClinVar RCV000187183
- ClinVar RCV000690704
- Uncertain significance
- not provided; Inborn genetic diseases; Cortical dysplasia-focal epilepsy syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.21
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Cortical dysplasia-focal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.5e-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)