R45M (p.Arg45Met) variant of MMAB (Q96EY8)
R45M (p.Arg45Met) in MMAB (Q96EY8) is a missense change. 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.
R45M (p.Arg45Met) variant details
- p.Arg45Met
- ExAC rs780742465
- TOPMed rs780742465
- gnomAD rs780742465
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 35.00
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available