T36T (p.Thr36Thr) variant of TAFAZZIN (Q16635)
T36T (p.Thr36Thr) in TAFAZZIN (Q16635) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T36T (p.Thr36Thr) variant details
- p.Thr36Thr
- gnomAD X-154411951-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 15.30
- Population evidence available
- Structural context available
- Literature evidence available