P29T (p.Pro29Thr) variant of KCNQ2 (O43526)
P29T (p.Pro29Thr) 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.
P29T (p.Pro29Thr) variant details
- p.Pro29Thr
- rs1443768998
- ClinGen CA409635838
- ClinVar RCV006561981
- TOPMed rs1443768998
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.42
- CADD 23.00
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available