F11S (p.Phe11Ser) variant of MITF (O75030)
F11S (p.Phe11Ser) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F11S (p.Phe11Ser) variant details
- p.Phe11Ser
- Ensembl rs2106732537
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.28
- CADD 32.00
- PolyPhen-2 0.72
- SIFT 0.00
- Population evidence available
- Structural context available