T144M (p.Thr144Met) variant of MMAB (Q96EY8)
T144M (p.Thr144Met) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T144M (p.Thr144Met) variant details
- p.Thr144Met
- TOPMed rs1231969665
- gnomAD rs1231969665
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 17.50
- PolyPhen-2 0.05
- SIFT 0.09
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available