L27P (p.Leu27Pro) variant of MITF (O75030)
L27P (p.Leu27Pro) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 3-69763852-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 15.80
- Population evidence available
- Structural context available
- Literature evidence available