R110L (p.Arg110Leu) variant of COMP (P49747)
R110L (p.Arg110Leu) in COMP (P49747) is a missense change. 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.
R110L (p.Arg110Leu) variant details
- p.Arg110Leu
- TOPMed rs2055200244
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 24.80
- PolyPhen-2 0.11
- SIFT 0.04
- Population evidence available
- Structural context available