L10V (p.Leu10Val) variant of MMAB (Q96EY8)
L10V (p.Leu10Val) 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 0.34 / 1. The record also includes structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- ExAC rs778630670
- TOPMed rs778630670
- gnomAD rs778630670
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- ESM-1b 0.12
- AlphaMissense 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available