I54T (p.Ile54Thr) variant of TAFAZZIN (Q16635)
I54T (p.Ile54Thr) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I54T (p.Ile54Thr) variant details
- p.Ile54Thr
- gnomAD X-154412137-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available