G6R (p.Gly6Arg) variant of MITF (O75030)
G6R (p.Gly6Arg) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- TOPMed rs1207755717
- gnomAD rs1207755717
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.29
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available