L18W (p.Leu18Trp) variant of SDHA (P31040)
L18W (p.Leu18Trp) in SDHA (P31040) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L18W (p.Leu18Trp) variant details
- p.Leu18Trp
- gnomAD 5-218405-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available