E82G (p.Glu82Gly) variant of MMAA (Q8IVH4)
E82G (p.Glu82Gly) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E82G (p.Glu82Gly) variant details
- p.Glu82Gly
- TOPMed rs1727716308
- gnomAD rs1727716308
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.35
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available