I7V (p.Ile7Val) variant of MITF (O75030)
I7V (p.Ile7Val) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I7V (p.Ile7Val) variant details
- p.Ile7Val
- gnomAD 3-69739616-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.16
- CADD 26.90
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available