P88Q (p.Pro88Gln) variant of KCNQ2 (O43526)
P88Q (p.Pro88Gln) 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 0.76 / 1. The record also includes population frequency data and structural context.
P88Q (p.Pro88Gln) variant details
- p.Pro88Gln
- rs2145921050
- ClinGen CA409635041
- ClinVar RCV006466745
- Ensembl rs2145921050
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.79
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available