D507E (p.Asp507Glu) variant of COMP (P49747)
D507E (p.Asp507Glu) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Connective tissue disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
D507E (p.Asp507Glu) variant details
- p.Asp507Glu
- rs2145900494
- ClinGen CA404883604
- ClinVar RCV002278709
- Ensembl rs2145900494
- Uncertain significance
- Connective tissue disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Connective tissue disorder)
- EBI: Likely pathogenic (in PSACH)
- UniProt: Likely pathogenic (in PSACH)
- Structural context available
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)