E152G (p.Glu152Gly) variant of COMP (P49747)
E152G (p.Glu152Gly) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E152G (p.Glu152Gly) variant details
- p.Glu152Gly
- ExAC rs774739958
- TOPMed rs774739958
- gnomAD rs774739958
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.46
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available