K22I (p.Lys22Ile) variant of MITF (O75030)
K22I (p.Lys22Ile) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K22I (p.Lys22Ile) variant details
- p.Lys22Ile
- gnomAD 3-69739662-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.27
- CADD 32.00
- PolyPhen-2 0.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available