P21T (p.Pro21Thr) variant of MITF (O75030)
P21T (p.Pro21Thr) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- Ensembl rs2106732731
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.19
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.10
- Population evidence available
- Structural context available