L32P (p.Leu32Pro) variant of MITF (O75030)
L32P (p.Leu32Pro) 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 and structural context.
L32P (p.Leu32Pro) variant details
- p.Leu32Pro
- ExAC rs769488240
- gnomAD rs769488240
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.28
- CADD 27.00
- PolyPhen-2 0.26
- SIFT 0.00
- Population evidence available
- Structural context available