T23I (p.Thr23Ile) variant of MITF (O75030)
T23I (p.Thr23Ile) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- TOPMed rs1703451048
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.23
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available