C21G (p.Cys21Gly) variant of MMAB (Q96EY8)
C21G (p.Cys21Gly) in MMAB (Q96EY8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
C21G (p.Cys21Gly) variant details
- p.Cys21Gly
- ExAC rs763383858
- TOPMed rs763383858
- gnomAD rs763383858
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- ESM-1b 0.00
- AlphaMissense 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available