K34N (p.Lys34Asn) variant of CNTNAP2 (Q9UHC6)
K34N (p.Lys34Asn) 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 0.23 / 1. The record also includes population frequency data and structural context.
K34N (p.Lys34Asn) variant details
- p.Lys34Asn
- rs779436784
- NCI-TCGA Cosmic COSV6219
- ClinGen CA4545698
- ClinVar RCV001349854
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.20
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.76
- ClinVar: Uncertain significance (Cortical dysplasia-focal epilepsy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available