A19P (p.Ala19Pro) variant of SDHA (P31040)
A19P (p.Ala19Pro) in SDHA (P31040) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- gnomAD 5-218408-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available