D435H (p.Asp435His) variant of COMP (P49747)
D435H (p.Asp435His) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple epiphyseal dysplasia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
D435H (p.Asp435His) variant details
- p.Asp435His
- rs2512847828
- ClinGen CA404885611
- ClinVar RCV004006238
- Likely pathogenic
- Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (Multiple epiphyseal dysplasia type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)