R15P (p.Arg15Pro) variant of MMAB (Q96EY8)
R15P (p.Arg15Pro) 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 0.46 / 1. The record also includes population frequency data and structural context.
R15P (p.Arg15Pro) variant details
- p.Arg15Pro
- ESP rs367711757
- ExAC rs367711757
- TOPMed rs367711757
- gnomAD rs367711757
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.44
- ESM-1b 0.90
- AlphaMissense 0.13
- CADD 25.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available