I96M (p.Ile96Met) variant of MMAB (Q96EY8)
I96M (p.Ile96Met) in MMAB (Q96EY8) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in MACB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
I96M (p.Ile96Met) variant details
- p.Ile96Met
- 1000Genomes rs62000414
- ESP rs62000414
- ExAC rs62000414
- TOPMed rs62000414
- Benign
- in MACB
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 22.90
- PolyPhen-2 0.88
- SIFT 0.00
- EBI: Benign (in MACB)
- UniProt: Benign (in MACB)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available