V5M (p.Val5Met) variant of TAFAZZIN (Q16635)
V5M (p.Val5Met) 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.
V5M (p.Val5Met) variant details
- p.Val5Met
- gnomAD X-154411856-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available