H18H (p.His18His) variant of MITF (O75030)
H18H (p.His18His) in MITF (O75030) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
H18H (p.His18His) variant details
- p.His18His
- rs898626089
- gnomAD 3-69739651-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 13.20
- Population evidence available
- Structural context available
- Literature evidence available