A43E (p.Ala43Glu) variant of COMP (P49747)
A43E (p.Ala43Glu) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A43E (p.Ala43Glu) variant details
- p.Ala43Glu
- gnomAD rs1353242672
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.05
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 16.90
- PolyPhen-2 0.18
- SIFT 0.65
- Population evidence available
- Structural context available