D79N (p.Asp79Asn) variant of MMAB (Q96EY8)
D79N (p.Asp79Asn) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
D79N (p.Asp79Asn) variant details
- p.Asp79Asn
- Ensembl rs572383545
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- ESM-1b 1.00
- AlphaMissense 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available