A60P (p.Ala60Pro) variant of TAFAZZIN (Q16635)
A60P (p.Ala60Pro) in TAFAZZIN (Q16635) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A60P (p.Ala60Pro) variant details
- p.Ala60Pro
- gnomAD X-154411965-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 12.70
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- Literature evidence available