Q118R (p.Gln118Arg) variant of MMAB (Q96EY8)
Q118R (p.Gln118Arg) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
Q118R (p.Gln118Arg) variant details
- p.Gln118Arg
- ExAC rs768944676
- gnomAD rs768944676
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available