G39V (p.Gly39Val) variant of MMAB (Q96EY8)
G39V (p.Gly39Val) 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.
G39V (p.Gly39Val) variant details
- p.Gly39Val
- TOPMed rs1466525448
- gnomAD rs1466525448
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available