Q456P (p.Gln456Pro) variant of COMP (P49747)
Q456P (p.Gln456Pro) 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.
Q456P (p.Gln456Pro) variant details
- p.Gln456Pro
- rs2145900873
- ClinGen CA404884883
- ClinVar RCV002238718
- Ensembl rs2145900873
- Likely pathogenic
- Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Multiple epiphyseal dysplasia type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)