L39F (p.Leu39Phe) variant of CNTNAP2 (Q9UHC6)
L39F (p.Leu39Phe) 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; Cortical dysplasia-focal epilepsy syndrome; Inborn genetic disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L39F (p.Leu39Phe) variant details
- p.Leu39Phe
- rs747896321
- ClinGen CA314224
- ClinVar RCV000187242
- ClinVar RCV001857607
- Uncertain significance
- not provided; Cortical dysplasia-focal epilepsy syndrome; Inborn genetic disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.53
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cortical dysplasia-focal epilepsy syndrome; Inborn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)