P59L (p.Pro59Leu) variant of TAFAZZIN (Q16635)
P59L (p.Pro59Leu) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- rs397515736
- gnomAD X-154411980-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 6.78
- Most common in the East Asian population (allele frequency 0.00034)
- Structural context available
- Literature evidence available