A102P (p.Ala102Pro) variant of KCNQ3 (O43525)
A102P (p.Ala102Pro) 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 0.69 / 1. The record also includes population frequency data and structural context.
A102P (p.Ala102Pro) variant details
- p.Ala102Pro
- TOPMed rs867066299
- gnomAD rs867066299
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.67
- CADD 25.00
- PolyPhen-2 0.41
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available