K28R (p.Lys28Arg) variant of MITF (O75030)
K28R (p.Lys28Arg) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K28R (p.Lys28Arg) variant details
- p.Lys28Arg
- gnomAD 3-69739680-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.21
- CADD 25.10
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available