H690Y (p.His690Tyr) variant of CHD2 (O14647)
H690Y (p.His690Tyr) in CHD2 (O14647) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
H690Y (p.His690Tyr) variant details
- p.His690Tyr
- rs2053779726
- ClinGen CA393907141
- cosmic curated COSV10655
- ClinVar RCV001265376
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 0.98
- MetaLR 0.92
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available