F9V (p.Phe9Val) variant of TAFAZZIN (Q16635)
F9V (p.Phe9Val) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
F9V (p.Phe9Val) variant details
- p.Phe9Val
- gnomAD X-154411868-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 27.00
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available