P9L (p.Pro9Leu) variant of MITF (O75030)
P9L (p.Pro9Leu) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- gnomAD 3-69739623-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.17
- CADD 24.60
- PolyPhen-2 0.07
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available