P38S (p.Pro38Ser) variant of CNTNAP2 (Q9UHC6)
P38S (p.Pro38Ser) 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 0.51 / 1. The record also includes structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- rs2129185957
- ClinGen CA369922252
- NCI-TCGA Cosmic COSV1006
- ClinVar RCV001996504
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- AlphaMissense 0.21
- MetaLR 0.62
- MetaSVM 0.10
- PolyPhen-2 0.09
- SIFT 0.07
- MutPred 0.59
- ClinVar: Uncertain significance (Cortical dysplasia-focal epilepsy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available