D10G (p.Asp10Gly) variant of MITF (O75030)
D10G (p.Asp10Gly) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D10G (p.Asp10Gly) variant details
- p.Asp10Gly
- gnomAD 3-69739626-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.41
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available