P5T (p.Pro5Thr) variant of CNTNAP2 (Q9UHC6)
P5T (p.Pro5Thr) 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.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- rs1797490961
- ClinGen CA369921998
- ClinVar RCV001367276
- Ensembl rs1797490961
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.14
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Cortical dysplasia-focal epilepsy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available