G14E (p.Gly14Glu) variant of MITF (O75030)
G14E (p.Gly14Glu) in MITF (O75030) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G14E (p.Gly14Glu) variant details
- p.Gly14Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.37
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available