W7L (p.Trp7Leu) variant of TAFAZZIN (Q16635)
W7L (p.Trp7Leu) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
W7L (p.Trp7Leu) variant details
- p.Trp7Leu
- gnomAD X-154411863-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available