T31R (p.Thr31Arg) variant of CNTNAP2 (Q9UHC6)
T31R (p.Thr31Arg) 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 0.34 / 1. The record also includes population frequency data and structural context.
T31R (p.Thr31Arg) variant details
- p.Thr31Arg
- rs1387747328
- ClinGen CA369922163
- ClinVar RCV001952986
- TOPMed rs1387747328
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.20
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.08
- 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