D349H (p.Asp349His) variant of COMP (P49747)
D349H (p.Asp349His) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
D349H (p.Asp349His) variant details
- p.Asp349His
- rs2145902248
- ClinGen CA404888430
- ClinVar RCV002306432
- Pathogenic
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome)
- EBI: Pathogenic (in PSACH)
- UniProt: Pathogenic (in PSACH)
- Structural context available
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)