P8Q (p.Pro8Gln) variant of TAFAZZIN (Q16635)
P8Q (p.Pro8Gln) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P8Q (p.Pro8Gln) variant details
- p.Pro8Gln
- gnomAD X-154411866-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available