T23A (p.Thr23Ala) variant of MITF (O75030)
T23A (p.Thr23Ala) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T23A (p.Thr23Ala) variant details
- p.Thr23Ala
- gnomAD 3-69739664-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.29
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available