T35I (p.Thr35Ile) variant of KCNQ2 (O43526)
T35I (p.Thr35Ile) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T35I (p.Thr35Ile) variant details
- p.Thr35Ile
- cosmic curated COSV60434
- TOPMed rs984632499
- gnomAD rs984632499
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.40
- CADD 23.00
- PolyPhen-2 0.20
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available