P31T (p.Pro31Thr) variant of MITF (O75030)
P31T (p.Pro31Thr) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P31T (p.Pro31Thr) variant details
- p.Pro31Thr
- gnomAD 3-69739688-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.21
- CADD 24.60
- PolyPhen-2 0.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available