S5F (p.Ser5Phe) variant of MITF (O75030)
S5F (p.Ser5Phe) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- rs371867296
- gnomAD 3-69866328-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 19.50
- Population evidence available
- Structural context available
- Literature evidence available