P5L (p.Pro5Leu) variant of CNTNAP2 (Q9UHC6)
P5L (p.Pro5Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- rs779710846
- ClinGen CA4545681
- ClinVar RCV001938112
- ExAC rs779710846
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.22
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Cortical dysplasia-focal epilepsy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available