A17G (p.Ala17Gly) variant of SDHA (P31040)
A17G (p.Ala17Gly) in SDHA (P31040) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- gnomAD 5-218404-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available