D399N (p.Asp399Asn) variant of COMP (P49747)
D399N (p.Asp399Asn) 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; Carpal tunnel syndrome 2; Pseudoachondropl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
D399N (p.Asp399Asn) variant details
- p.Asp399Asn
- rs1555791490
- ClinGen CA404886685
- ClinVar RCV000521517
- ClinVar RCV004796224
- Likely pathogenic
- Multiple epiphyseal dysplasia type 1; Carpal tunnel syndrome 2; Pseudoachondropl
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 1.00
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Multiple epiphyseal dysplasia type 1; Carpal tunnel syndrome 2;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)