H4Y (p.His4Tyr) variant of TAFAZZIN (Q16635)
H4Y (p.His4Tyr) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of 3-Methylglutaconic aciduria type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H4Y (p.His4Tyr) variant details
- p.His4Tyr
- gnomAD rs1557190780
- Uncertain significance
- 3-Methylglutaconic aciduria type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 16.90
- PolyPhen-2 0.43
- SIFT 0.02
- ClinVar: Uncertain significance (3-Methylglutaconic aciduria type 2)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available