K22Q (p.Lys22Gln) variant of MITF (O75030)
K22Q (p.Lys22Gln) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K22Q (p.Lys22Gln) variant details
- p.Lys22Gln
- TOPMed rs1323075294
- gnomAD rs1323075294
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.16
- CADD 29.30
- PolyPhen-2 0.72
- SIFT 0.04
- Population evidence available
- Structural context available