M578V (p.Met578Val) variant of KCNQ2 (O43526)
M578V (p.Met578Val) 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; Seizures, benign familial neonatal, 1; Developmental and ep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
M578V (p.Met578Val) variant details
- p.Met578Val
- rs1057516123
- ClinGen CA10654781
- ClinVar RCV000480958
- ClinVar RCV000678193
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Seizures, benign familial neonatal, 1; Developmental and ep
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.97
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.03
- CADD 25.60
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Seizures, benign familial neonatal, 1; Deve)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. (PMID 25982755)
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)