P31Q (p.Pro31Gln) variant of MITF (O75030)
P31Q (p.Pro31Gln) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P31Q (p.Pro31Gln) variant details
- p.Pro31Gln
- gnomAD 3-69739689-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.17
- CADD 27.50
- PolyPhen-2 0.34
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available