D385N (p.Asp385Asn) variant of COMP (P49747)
D385N (p.Asp385Asn) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carpal tunnel syndrome 2; Multiple epiphyseal dysplasia type 1; Pseudoachondropl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D385N (p.Asp385Asn) variant details
- p.Asp385Asn
- rs1601054715
- ClinGen CA404887165
- NCI-TCGA Cosmic COSV9972
- cosmic curated COSV99721
- Pathogenic/Likely pathogenic
- Carpal tunnel syndrome 2; Multiple epiphyseal dysplasia type 1; Pseudoachondropl
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Carpal tunnel syndrome 2; Multiple epiphyseal dysplasia type 1;)
- EBI: Pathogenic (in EDM1)
- UniProt: Pathogenic (in EDM1)
- Structural context available
- Cited in: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes… (PMID 21922596)
- Cited in: Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect… (PMID 11084047)