Q2Q (p.Gln2Gln) variant of MITF (O75030)
Q2Q (p.Gln2Gln) in MITF (O75030) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Q2Q (p.Gln2Gln) variant details
- p.Gln2Gln
- gnomAD 3-69739603-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available