T16I (p.Thr16Ile) variant of TAFAZZIN (Q16635)
T16I (p.Thr16Ile) in TAFAZZIN (Q16635) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
T16I (p.Thr16Ile) variant details
- p.Thr16Ile
- TOPMed rs1227132566
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- AlphaMissense 0.10
- MetaLR 0.87
- MetaSVM 0.49
- CADD 26.10
- PolyPhen-2 0.00
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available