H4R (p.His4Arg) variant of TAFAZZIN (Q16635)
H4R (p.His4Arg) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
H4R (p.His4Arg) variant details
- p.His4Arg
- gnomAD X-154411854-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 13.00
- PolyPhen-2 0.16
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available