L27F (p.Leu27Phe) variant of MITF (O75030)
L27F (p.Leu27Phe) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L27F (p.Leu27Phe) variant details
- p.Leu27Phe
- rs1428971222
- gnomAD 3-69763851-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 13.20
- Population evidence available
- Structural context available
- Literature evidence available