A11T (p.Ala11Thr) variant of TAFAZZIN (Q16635)
A11T (p.Ala11Thr) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- gnomAD X-154411874-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 18.50
- PolyPhen-2 0.99
- SIFT 0.57
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available