Q30Q (p.Gln30Gln) variant of MITF (O75030)
Q30Q (p.Gln30Gln) in MITF (O75030) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q30Q (p.Gln30Gln) variant details
- p.Gln30Gln
- gnomAD 3-69739687-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 13.10
- Population evidence available
- Structural context available
- Literature evidence available