D518H (p.Asp518His) variant of COMP (P49747)
D518H (p.Asp518His) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of COMP-related disorder; Pseudoachondroplastic spondyloepiphyseal dysplasia syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D518H (p.Asp518His) variant details
- p.Asp518His
- rs1359984033
- ClinGen CA404883300
- ClinVar RCV000990188
- ClinVar RCV005092981
- Pathogenic/Likely pathogenic
- COMP-related disorder; Pseudoachondroplastic spondyloepiphyseal dysplasia syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (COMP-related disorder; Pseudoachondroplastic spondyloepiphyseal)
- EBI: Pathogenic (in PSACH)
- UniProt: Pathogenic (in PSACH)
- Structural context available
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)