P147T (p.Pro147Thr) variant of COMP (P49747)
P147T (p.Pro147Thr) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P147T (p.Pro147Thr) variant details
- p.Pro147Thr
- ExAC rs766383824
- TOPMed rs766383824
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.46
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available