A102T (p.Ala102Thr) variant of KCNQ3 (O43525)
A102T (p.Ala102Thr) 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 0.54 / 1. The record also includes population frequency data and structural context.
A102T (p.Ala102Thr) variant details
- p.Ala102Thr
- TOPMed rs867066299
- gnomAD rs867066299
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.42
- CADD 24.20
- PolyPhen-2 0.04
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available