F149L (p.Phe149Leu) variant of COMP (P49747)
F149L (p.Phe149Leu) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
F149L (p.Phe149Leu) variant details
- p.Phe149Leu
- TOPMed rs767728967
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available