A29D (p.Ala29Asp) variant of KCNQ3 (O43525)
A29D (p.Ala29Asp) 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 0.41 / 1. The record also includes population frequency data and structural context.
A29D (p.Ala29Asp) variant details
- p.Ala29Asp
- TOPMed rs1227699672
- gnomAD rs1227699672
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.34
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00049)
- Structural context available