E36D (p.Glu36Asp) variant of SDHC (Q99643)
E36D (p.Glu36Asp) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E36D (p.Glu36Asp) variant details
- p.Glu36Asp
- gnomAD 1-161328426-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.55
- MetaLR 0.85
- MetaSVM 0.65
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available