L14P (p.Leu14Pro) variant of CNTNAP2 (Q9UHC6)
L14P (p.Leu14Pro) 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 specified; Cortical dysplasia-focal epilepsy syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- rs1283986677
- ClinGen CA369922052
- ClinVar RCV001216518
- ClinVar RCV004690019
- Uncertain significance
- Inborn genetic diseases; not specified; Cortical dysplasia-focal epilepsy syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.26
- CADD 6.72
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified; Cortical dysplasia-focal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)