S3Y (p.Ser3Tyr) variant of MITF (O75030)
S3Y (p.Ser3Tyr) 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.
S3Y (p.Ser3Tyr) variant details
- p.Ser3Tyr
- gnomAD 3-69739605-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.07
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available