P31S (p.Pro31Ser) variant of MITF (O75030)
P31S (p.Pro31Ser) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- gnomAD 3-69739688-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.19
- CADD 24.70
- PolyPhen-2 0.15
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available