A11P (p.Ala11Pro) variant of TAFAZZIN (Q16635)
A11P (p.Ala11Pro) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A11P (p.Ala11Pro) variant details
- p.Ala11Pro
- gnomAD X-154413299-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0843
- CADD 0.52
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available