G7E (p.Gly7Glu) variant of MMAB (Q96EY8)
G7E (p.Gly7Glu) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G7E (p.Gly7Glu) variant details
- p.Gly7Glu
- gnomAD rs1243516923
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available