G14W (p.Gly14Trp) variant of MITF (O75030)
G14W (p.Gly14Trp) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G14W (p.Gly14Trp) variant details
- p.Gly14Trp
- gnomAD 3-69739637-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.34
- CADD 32.00
- PolyPhen-2 0.47
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available