L22P (p.Leu22Pro) variant of CNTNAP2 (Q9UHC6)
L22P (p.Leu22Pro) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cortical dysplasia-focal epilepsy syndrome; not provided; Inborn genetic disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- rs768374052
- ClinGen CA314255
- ClinVar RCV000472018
- ClinVar RCV000726104
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome; not provided; Inborn genetic disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Cortical dysplasia-focal epilepsy syndrome; not provided; Inborn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00072)
- 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)