P9T (p.Pro9Thr) variant of MITF (O75030)
P9T (p.Pro9Thr) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P9T (p.Pro9Thr) variant details
- p.Pro9Thr
- gnomAD 3-69739622-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.07
- CADD 23.40
- PolyPhen-2 0.06
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available