I7N (p.Ile7Asn) variant of MITF (O75030)
I7N (p.Ile7Asn) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I7N (p.Ile7Asn) variant details
- p.Ile7Asn
- gnomAD 3-69763885-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 2.22
- Population evidence available
- Structural context available
- Literature evidence available