S3F (p.Ser3Phe) variant of MITF (O75030)
S3F (p.Ser3Phe) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- gnomAD 3-69739605-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.07
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available