T81N (p.Thr81Asn) variant of KCNQ3 (O43525)
T81N (p.Thr81Asn) 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 0.42 / 1. The record also includes population frequency data and structural context.
T81N (p.Thr81Asn) variant details
- p.Thr81Asn
- 1000Genomes rs77663285
- ExAC rs77663285
- TOPMed rs77663285
- gnomAD rs77663285
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.30
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available