S5W (p.Ser5Trp) variant of MITF (O75030)
S5W (p.Ser5Trp) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S5W (p.Ser5Trp) variant details
- p.Ser5Trp
- TOPMed rs1413689457
- gnomAD rs1413689457
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.22
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available