A60A (p.Ala60Ala) variant of TAFAZZIN (Q16635)
A60A (p.Ala60Ala) in TAFAZZIN (Q16635) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A60A (p.Ala60Ala) variant details
- p.Ala60Ala
- gnomAD X-154412156-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 15.10
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available