T23S (p.Thr23Ser) variant of MITF (O75030)
T23S (p.Thr23Ser) 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, published literature, and structural context.
T23S (p.Thr23Ser) variant details
- p.Thr23Ser
- gnomAD 3-69739665-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.23
- CADD 21.90
- PolyPhen-2 0.02
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available