A34E (p.Ala34Glu) variant of KCNQ3 (O43525)
A34E (p.Ala34Glu) in KCNQ3 (O43525) 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 0.40 / 1. The record also includes population frequency data and structural context.
A34E (p.Ala34Glu) variant details
- p.Ala34Glu
- rs1412895282
- ClinGen CA372292895
- ClinVar RCV001092149
- gnomAD rs1412895282
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available