A9D (p.Ala9Asp) variant of SDHD (O14521)
A9D (p.Ala9Asp) in SDHD (O14521) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- gnomAD 11-112086933-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.53
- CADD 20.50
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available