Q30K (p.Gln30Lys) variant of MITF (O75030)
Q30K (p.Gln30Lys) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q30K (p.Gln30Lys) variant details
- p.Gln30Lys
- gnomAD 3-69739685-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.20
- CADD 24.60
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available