I54F (p.Ile54Phe) variant of TAFAZZIN (Q16635)
I54F (p.Ile54Phe) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I54F (p.Ile54Phe) variant details
- p.Ile54Phe
- gnomAD X-154412136-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available