T114P (p.Thr114Pro) variant of KCNQ2 (O43526)
T114P (p.Thr114Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
T114P (p.Thr114Pro) variant details
- p.Thr114Pro
- rs1057516076
- ClinGen CA409656459
- ClinVar RCV001561381
- Ensembl rs1057516076
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- Structural context available