H45H (p.His45His) variant of TAFAZZIN (Q16635)
H45H (p.His45His) in TAFAZZIN (Q16635) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H45H (p.His45His) variant details
- p.His45His
- gnomAD X-154412111-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available