A19D (p.Ala19Asp) variant of SDHA (P31040)
A19D (p.Ala19Asp) 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.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- gnomAD 5-218411-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.08
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available