S29C (p.Ser29Cys) variant of MITF (O75030)
S29C (p.Ser29Cys) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S29C (p.Ser29Cys) variant details
- p.Ser29Cys
- gnomAD 3-69739682-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.26
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available