A12V (p.Ala12Val) variant of CNTNAP2 (Q9UHC6)
A12V (p.Ala12Val) 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 0.32 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs2535699006
- ClinGen CA369922043
- ClinVar RCV002304658
- NCI-TCGA TCGA novel
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.22
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.68
- ClinVar: Uncertain significance (Cortical dysplasia-focal epilepsy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available