L16M (p.Leu16Met) variant of SDHA (P31040)
L16M (p.Leu16Met) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L16M (p.Leu16Met) variant details
- p.Leu16Met
- gnomAD 5-218401-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0946
- REVEL 0.05
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available