E81G (p.Glu81Gly) variant of MECOM (Q03112)
E81G (p.Glu81Gly) in MECOM (Q03112) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
E81G (p.Glu81Gly) variant details
- p.Glu81Gly
- TOPMed rs1732347296
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)