D44E (p.Asp44Glu) variant of MMAB (Q96EY8)
D44E (p.Asp44Glu) in MMAB (Q96EY8) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D44E (p.Asp44Glu) variant details
- p.Asp44Glu
- ExAC rs747649185
- gnomAD rs747649185
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available