P147Q (p.Pro147Gln) variant of COMP (P49747)
P147Q (p.Pro147Gln) in COMP (P49747) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P147Q (p.Pro147Gln) variant details
- p.Pro147Gln
- cosmic curated COSV55876
- TOPMed rs778825368
- gnomAD rs778825368
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.61
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available