V5V (p.Val5Val) variant of TAFAZZIN (Q16635)
V5V (p.Val5Val) in TAFAZZIN (Q16635) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V5V (p.Val5Val) variant details
- p.Val5Val
- gnomAD X-154411858-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available