I54L (p.Ile54Leu) variant of TAFAZZIN (Q16635)
I54L (p.Ile54Leu) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I54L (p.Ile54Leu) variant details
- p.Ile54Leu
- gnomAD X-154412136-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.39
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available
- Literature evidence available