A1610V (p.Ala1610Val) variant of CHD2 (O14647)
A1610V (p.Ala1610Val) 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 0.42 / 1. The record also includes structural context.
A1610V (p.Ala1610Val) variant details
- p.Ala1610Val
- rs1555445693
- ClinGen CA393906782
- ClinVar RCV000656036
- Ensembl rs1555445693
- Pathogenic
- Self-limited epilepsy with centrotemporal spikes
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.07
- MetaLR 0.38
- MetaSVM -0.53
- PolyPhen-2 0.01
- SIFT 0.29
- MutPred 0.06
- ClinVar: Pathogenic (Self-limited epilepsy with centrotemporal spikes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available