A116E (p.Ala116Glu) variant of COMP (P49747)
A116E (p.Ala116Glu) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A116E (p.Ala116Glu) variant details
- p.Ala116Glu
- TOPMed rs1457861295
- gnomAD rs1457861295
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available