P67A (p.Pro67Ala) variant of KCNQ2 (O43526)
P67A (p.Pro67Ala) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P67A (p.Pro67Ala) variant details
- p.Pro67Ala
- rs972841085
- ClinGen CA409635221
- ClinVar RCV006464746
- TOPMed rs972841085
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.39
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.14
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available