E40K (p.Glu40Lys) variant of COMP (P49747)
E40K (p.Glu40Lys) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- ExAC rs773766773
- TOPMed rs773766773
- gnomAD rs773766773
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 20.60
- PolyPhen-2 0.22
- SIFT 0.44
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available