P135L (p.Pro135Leu) variant of COMP (P49747)
P135L (p.Pro135Leu) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P135L (p.Pro135Leu) variant details
- p.Pro135Leu
- TOPMed rs2055193100
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available