V12L (p.Val12Leu) variant of TAFAZZIN (Q16635)
V12L (p.Val12Leu) 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.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- gnomAD X-154411877-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 22.20
- PolyPhen-2 0.97
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available