E50K (p.Glu50Lys) variant of COMP (P49747)
E50K (p.Glu50Lys) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- gnomAD rs1476300753
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 26.00
- PolyPhen-2 0.47
- SIFT 0.03
- Population evidence available
- Structural context available