F97L (p.Phe97Leu) variant of COMP (P49747)
F97L (p.Phe97Leu) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
F97L (p.Phe97Leu) variant details
- p.Phe97Leu
- rs1250618424
- ClinGen CA404898632
- ClinVar RCV002820437
- TOPMed rs1250618424
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 22.70
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available