Q76R (p.Gln76Arg) variant of COMP (P49747)
Q76R (p.Gln76Arg) 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 0.19 / 1. The record also includes population frequency data and structural context.
Q76R (p.Gln76Arg) variant details
- p.Gln76Arg
- TOPMed rs2055201345
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available