H4Q (p.His4Gln) variant of TAFAZZIN (Q16635)
H4Q (p.His4Gln) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
H4Q (p.His4Gln) variant details
- p.His4Gln
- ExAC rs782329160
- TOPMed rs782329160
- gnomAD rs782329160
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- CADD 5.57
- PolyPhen-2 0.02
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 6.4e-05)
- Structural context available