A60T (p.Ala60Thr) variant of TAFAZZIN (Q16635)
A60T (p.Ala60Thr) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- rs781836148
- gnomAD X-154411967-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 17.30
- Most common in the Latino/Admixed American population (allele frequency 0.00015)
- Structural context available
- Literature evidence available