A27D (p.Ala27Asp) variant of SDHC (Q99643)
A27D (p.Ala27Asp) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- gnomAD 1-161328398-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.75
- MetaLR 0.90
- MetaSVM 1.00
- CADD 25.10
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available