V8M (p.Val8Met) variant of MITF (O75030)
V8M (p.Val8Met) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- gnomAD rs1188943383
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.24
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available