E37D (p.Glu37Asp) variant of COMP (P49747)
E37D (p.Glu37Asp) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E37D (p.Glu37Asp) variant details
- p.Glu37Asp
- gnomAD rs2055208661
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 13.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available