V8M (p.Val8Met) variant of TRMU (O75648)
V8M (p.Val8Met) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- ExAC rs774656347
- TOPMed rs774656347
- gnomAD rs774656347
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Amish population (allele frequency 1)
- Structural context available