P8L (p.Pro8Leu) variant of TAFAZZIN (Q16635)
P8L (p.Pro8Leu) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- gnomAD rs1557190811
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.31
- Population evidence available
- Structural context available