L3M (p.Leu3Met) variant of TAFAZZIN (Q16635)
L3M (p.Leu3Met) in TAFAZZIN (Q16635) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L3M (p.Leu3Met) variant details
- p.Leu3Met
- 1000Genomes rs2148184240
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available