Q122R (p.Gln122Arg) variant of MMAB (Q96EY8)
Q122R (p.Gln122Arg) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Q122R (p.Gln122Arg) variant details
- p.Gln122Arg
- ExAC rs775952240
- gnomAD rs775952240
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.47
- CADD 23.20
- PolyPhen-2 0.68
- SIFT 0.30
- Population evidence available
- Structural context available