G6A (p.Gly6Ala) variant of MITF (O75030)
G6A (p.Gly6Ala) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G6A (p.Gly6Ala) variant details
- p.Gly6Ala
- gnomAD 3-69763846-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 11.50
- Population evidence available
- Structural context available
- Literature evidence available