H45R (p.His45Arg) variant of TAFAZZIN (Q16635)
H45R (p.His45Arg) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
H45R (p.His45Arg) variant details
- p.His45Arg
- ExAC rs782760784
- gnomAD rs782760784
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 24.90
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available