R47H (p.Arg47His) variant of TAFAZZIN (Q16635)
R47H (p.Arg47His) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
R47H (p.Arg47His) variant details
- p.Arg47His
- gnomAD X-154418570-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0517
- CADD 0.17
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available