L27I (p.Leu27Ile) variant of MITF (O75030)
L27I (p.Leu27Ile) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L27I (p.Leu27Ile) variant details
- p.Leu27Ile
- gnomAD 3-69739676-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.12
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available