L27H (p.Leu27His) variant of MITF (O75030)
L27H (p.Leu27His) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L27H (p.Leu27His) variant details
- p.Leu27His
- gnomAD 3-69739677-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.33
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available