F17S (p.Phe17Ser) variant of MITF (O75030)
F17S (p.Phe17Ser) in MITF (O75030) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
F17S (p.Phe17Ser) variant details
- p.Phe17Ser
- gnomAD 3-69763884-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.084
- CADD 0.59
- Population evidence available
- Structural context available
- Literature evidence available