A18E (p.Ala18Glu) variant of COMP (P49747)
A18E (p.Ala18Glu) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- TOPMed rs960486736
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 2.50
- PolyPhen-2 0.02
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available