D32E (p.Asp32Glu) variant of KCNQ3 (O43525)
D32E (p.Asp32Glu) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D32E (p.Asp32Glu) variant details
- p.Asp32Glu
- TOPMed rs1416576368
- gnomAD rs1416576368
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.24
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available