Q2* (p.Gln2Ter) variant of MITF (O75030)
Q2* (p.Gln2Ter) in MITF (O75030) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
Q2* (p.Gln2Ter) variant details
- p.Gln2Ter
- Ensembl rs2106732376
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 37.00
- Population evidence available
- Structural context available