T23P (p.Thr23Pro) variant of MITF (O75030)
T23P (p.Thr23Pro) in MITF (O75030) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T23P (p.Thr23Pro) variant details
- p.Thr23Pro
- gnomAD 3-69763905-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 2.85
- Population evidence available
- Structural context available
- Literature evidence available