I278T (p.Ile278Thr) variant of KCNQ2 (O43526)
I278T (p.Ile278Thr) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-infantile DEE; KCNQ2-Related Disorders; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
I278T (p.Ile278Thr) variant details
- p.Ile278Thr
- rs1057523728
- ClinGen CA409652725
- ClinVar RCV000494098
- ClinVar RCV000585874
- Pathogenic/Likely pathogenic
- Early-infantile DEE; KCNQ2-Related Disorders; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.97
- AlphaMissense 0.11
- CADD 27.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; KCNQ2-Related Disorders; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)