T529N (p.Thr529Asn) variant of COMP (P49747)
T529N (p.Thr529Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
T529N (p.Thr529Asn) variant details
- p.Thr529Asn
- rs312262903
- ClinGen CA404883043
- ClinVar RCV003990350
- Likely pathogenic
- Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Multiple epiphyseal dysplasia type 1)
- EBI: Likely pathogenic (in PSACH)
- UniProt: Likely pathogenic (in PSACH)
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)