C7Y (p.Cys7Tyr) variant of COMP (P49747)
C7Y (p.Cys7Tyr) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
C7Y (p.Cys7Tyr) variant details
- p.Cys7Tyr
- ExAC rs753831272
- TOPMed rs753831272
- gnomAD rs753831272
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.20
- ESM-1b 0.37
- AlphaMissense 0.12
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available