A60S (p.Ala60Ser) variant of TAFAZZIN (Q16635)
A60S (p.Ala60Ser) 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.
A60S (p.Ala60Ser) variant details
- p.Ala60Ser
- gnomAD X-154411967-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 16.90
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available