V13D (p.Val13Asp) variant of MITF (O75030)
V13D (p.Val13Asp) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V13D (p.Val13Asp) variant details
- p.Val13Asp
- gnomAD 3-69739635-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.25
- CADD 30.00
- PolyPhen-2 0.69
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available