S41F (p.Ser41Phe) variant of CNTNAP2 (Q9UHC6)
S41F (p.Ser41Phe) 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 0.59 / 1. The record also includes population frequency data and structural context.
S41F (p.Ser41Phe) variant details
- p.Ser41Phe
- rs1563225193
- ClinGen CA369922272
- ClinVar RCV001323632
- gnomAD rs1563225193
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.49
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (Cortical dysplasia-focal epilepsy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available