S29I (p.Ser29Ile) variant of MITF (O75030)
S29I (p.Ser29Ile) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S29I (p.Ser29Ile) variant details
- p.Ser29Ile
- TOPMed rs1703452239
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.39
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available