Y31H (p.Tyr31His) variant of TAFAZZIN (Q16635)
Y31H (p.Tyr31His) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Y31H (p.Tyr31His) variant details
- p.Tyr31His
- gnomAD X-154411934-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available