T114I (p.Thr114Ile) variant of KCNQ2 (O43526)
T114I (p.Thr114Ile) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of KCNQ2-Related Disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
T114I (p.Thr114Ile) variant details
- p.Thr114Ile
- rs1057516077
- ClinGen CA10654834
- ClinVar RCV000678117
- ClinVar RCV004530496
- Likely pathogenic
- KCNQ2-Related Disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (KCNQ2-Related Disorders)
- EBI: Likely pathogenic (in BFNS1)
- UniProt: Likely pathogenic (in BFNS1)
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)