P9Q (p.Pro9Gln) variant of MITF (O75030)
P9Q (p.Pro9Gln) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- gnomAD 3-69739623-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.11
- CADD 27.60
- PolyPhen-2 0.38
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available