V44L (p.Val44Leu) variant of TAFAZZIN (Q16635)
V44L (p.Val44Leu) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V44L (p.Val44Leu) variant details
- p.Val44Leu
- gnomAD X-154412106-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 25.00
- PolyPhen-2 0.64
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available