E15R (p.Glu15Arg) variant of MITF (O75030)
E15R (p.Glu15Arg) in MITF (O75030) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E15R (p.Glu15Arg) variant details
- p.Glu15Arg
- rs2106732605
- gnomAD 3-69739636-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available