S5S (p.Ser5Ser) variant of MITF (O75030)
S5S (p.Ser5Ser) in MITF (O75030) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S5S (p.Ser5Ser) variant details
- p.Ser5Ser
- gnomAD 3-69739612-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 9.87
- Population evidence available
- Structural context available
- Literature evidence available