E20D (p.Glu20Asp) variant of MITF (O75030)
E20D (p.Glu20Asp) in MITF (O75030) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- rs780642512
- ClinGen CA2490169
- ClinVar RCV000602256
- ExAC rs780642512
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.32
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available