P9S (p.Pro9Ser) variant of MITF (O75030)
P9S (p.Pro9Ser) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- gnomAD 3-69739622-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.07
- CADD 23.70
- PolyPhen-2 0.05
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available