S3S (p.Ser3Ser) variant of MITF (O75030)
S3S (p.Ser3Ser) in MITF (O75030) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S3S (p.Ser3Ser) variant details
- p.Ser3Ser
- gnomAD 3-69739606-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.82
- Population evidence available
- Structural context available
- Literature evidence available