V28L (p.Val28Leu) variant of TAFAZZIN (Q16635)
V28L (p.Val28Leu) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- gnomAD X-154411925-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 26.90
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available