N523K (p.Asn523Lys) variant of COMP (P49747)
N523K (p.Asn523Lys) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Multiple epiphyseal dysplasia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
N523K (p.Asn523Lys) variant details
- p.Asn523Lys
- rs137852654
- ClinGen CA120167
- ClinVar RCV000009767
- ClinVar RCV001851774
- Pathogenic/Likely pathogenic
- not provided; Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.95
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Multiple epiphyseal dysplasia type 1)
- EBI: Pathogenic (in EDM1)
- UniProt: Pathogenic (in EDM1)
- Structural context available
- Cited in: Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family. (PMID 9021009)
- Cited in: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes… (PMID 21922596)