A17R (p.Ala17Arg) variant of SDHA (P31040)
A17R (p.Ala17Arg) 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.
A17R (p.Ala17Arg) variant details
- p.Ala17Arg
- gnomAD 5-218402-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available