A60D (p.Ala60Asp) variant of TAFAZZIN (Q16635)
A60D (p.Ala60Asp) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A60D (p.Ala60Asp) variant details
- p.Ala60Asp
- gnomAD X-154411968-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 15.60
- Population evidence available
- Structural context available
- Literature evidence available