R26S (p.Arg26Ser) variant of MMAB (Q96EY8)
R26S (p.Arg26Ser) in MMAB (Q96EY8) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R26S (p.Arg26Ser) variant details
- p.Arg26Ser
- 1000Genomes rs539715623
- ExAC rs539715623
- TOPMed rs539715623
- gnomAD rs539715623
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available