L7M (p.Leu7Met) variant of SDHA (P31040)
L7M (p.Leu7Met) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- gnomAD 5-218374-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.07
- CADD 6.12
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available