T18T (p.Thr18Thr) variant of TAFAZZIN (Q16635)
T18T (p.Thr18Thr) in TAFAZZIN (Q16635) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T18T (p.Thr18Thr) variant details
- p.Thr18Thr
- rs781846964
- gnomAD X-154411897-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 13.50
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- Literature evidence available