A18D (p.Ala18Asp) variant of SDHD (O14521)
A18D (p.Ala18Asp) in SDHD (O14521) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD 11-112087857-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.72
- CADD 23.70
- PolyPhen-2 0.47
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available