L27L (p.Leu27Leu) variant of MITF (O75030)
L27L (p.Leu27Leu) in MITF (O75030) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L27L (p.Leu27Leu) variant details
- p.Leu27Leu
- gnomAD 3-69739678-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 15.00
- Population evidence available
- Structural context available
- Literature evidence available