G501S (p.Gly501Ser) variant of COMP (P49747)
G501S (p.Gly501Ser) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.92 / 1. The record also includes published literature and structural context.
G501S (p.Gly501Ser) variant details
- p.Gly501Ser
- rs2145900523
- ClinGen CA404883789
- ClinVar RCV001787703
- ClinVar RCV002236174
- Likely pathogenic
- not provided; Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 1.00
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Multiple epiphyseal dysplasia type 1)
- EBI: Likely pathogenic (in EDM1)
- UniProt: Likely pathogenic (in EDM1)
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)