S30C (p.Ser30Cys) variant of CNTNAP2 (Q9UHC6)
S30C (p.Ser30Cys) 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 0.42 / 1. The record also includes population frequency data and structural context.
S30C (p.Ser30Cys) variant details
- p.Ser30Cys
- rs2535699142
- ClinGen CA369922156
- ClinVar RCV003032784
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.24
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Cortical dysplasia-focal epilepsy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available