K28E (p.Lys28Glu) variant of MITF (O75030)
K28E (p.Lys28Glu) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K28E (p.Lys28Glu) variant details
- p.Lys28Glu
- gnomAD 3-69739679-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.26
- CADD 25.40
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available