G6E (p.Gly6Glu) variant of MITF (O75030)
G6E (p.Gly6Glu) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G6E (p.Gly6Glu) variant details
- p.Gly6Glu
- gnomAD rs1246900531
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.35
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available