L27F (p.Leu27Phe) variant of TAFAZZIN (Q16635)
L27F (p.Leu27Phe) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L27F (p.Leu27Phe) variant details
- p.Leu27Phe
- gnomAD X-154411924-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 22.40
- PolyPhen-2 0.99
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available