A11E (p.Ala11Glu) variant of TAFAZZIN (Q16635)
A11E (p.Ala11Glu) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A11E (p.Ala11Glu) variant details
- p.Ala11Glu
- gnomAD X-154411875-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 15.80
- PolyPhen-2 1.00
- SIFT 0.96
- Population evidence available
- Structural context available
- Literature evidence available