L19F (p.Leu19Phe) variant of TAFAZZIN (Q16635)
L19F (p.Leu19Phe) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- gnomAD X-154418587-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 6.00
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available