F17F (p.Phe17Phe) variant of MITF (O75030)
F17F (p.Phe17Phe) in MITF (O75030) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
F17F (p.Phe17Phe) variant details
- p.Phe17Phe
- gnomAD 3-69763889-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 5.03
- Population evidence available
- Structural context available
- Literature evidence available