E152D (p.Glu152Asp) variant of COMP (P49747)
E152D (p.Glu152Asp) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E152D (p.Glu152Asp) variant details
- p.Glu152Asp
- Ensembl rs1009005581
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 15.10
- PolyPhen-2 0.04
- SIFT 0.63
- Population evidence available
- Structural context available