G5V (p.Gly5Val) variant of MMAB (Q96EY8)
G5V (p.Gly5Val) in MMAB (Q96EY8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- ExAC rs769048646
- TOPMed rs769048646
- gnomAD rs769048646
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 8.54
- PolyPhen-2 0.00
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available