Q2E (p.Gln2Glu) variant of MITF (O75030)
Q2E (p.Gln2Glu) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Q2E (p.Gln2Glu) variant details
- p.Gln2Glu
- gnomAD 3-69739601-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.21
- CADD 25.90
- PolyPhen-2 0.86
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available