N555K (p.Asn555Lys) variant of COMP (P49747)
N555K (p.Asn555Lys) 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 0.79 / 1. The record also includes published literature and structural context.
N555K (p.Asn555Lys) variant details
- p.Asn555Lys
- rs397515511
- ClinGen CA404882077
- ClinVar RCV002288301
- ClinVar RCV003097765
- Pathogenic/Likely pathogenic
- not provided; Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.83
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Multiple epiphyseal dysplasia type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)