P9A (p.Pro9Ala) variant of MITF (O75030)
P9A (p.Pro9Ala) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P9A (p.Pro9Ala) variant details
- p.Pro9Ala
- TOPMed rs979674711
- gnomAD rs979674711
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.09
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available