D401H (p.Asp401His) variant of COMP (P49747)
D401H (p.Asp401His) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
D401H (p.Asp401His) variant details
- p.Asp401His
- rs2055169002
- ClinGen CA404886636
- ClinVar RCV001250924
- Ensembl rs2055169002
- Likely pathogenic
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)