G50D (p.Gly50Asp) variant of CHD2 (O14647)
G50D (p.Gly50Asp) in CHD2 (O14647) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Self-limited epilepsy with centrotemporal spikes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- rs1555437424
- ClinGen CA393896157
- cosmic curated COSV59122
- ClinVar RCV000656033
- Pathogenic
- Self-limited epilepsy with centrotemporal spikes
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- AlphaMissense 0.12
- MetaLR 0.54
- MetaSVM 0.06
- PolyPhen-2 0.57
- SIFT 0.03
- EVE 0.06
- ClinVar: Pathogenic (Self-limited epilepsy with centrotemporal spikes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available