T81I (p.Thr81Ile) variant of KCNQ3 (O43525)
T81I (p.Thr81Ile) in KCNQ3 (O43525) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
T81I (p.Thr81Ile) variant details
- p.Thr81Ile
- 1000Genomes rs77663285
- ExAC rs77663285
- TOPMed rs77663285
- gnomAD rs77663285
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.47
- CADD 22.60
- PolyPhen-2 0.16
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available