G97R (p.Gly97Arg) variant of MMAB (Q96EY8)
G97R (p.Gly97Arg) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G97R (p.Gly97Arg) variant details
- p.Gly97Arg
- ExAC rs755006914
- gnomAD rs755006914
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available