G10D (p.Gly10Asp) variant of SDHC (Q99643)
G10D (p.Gly10Asp) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G10D (p.Gly10Asp) variant details
- p.Gly10Asp
- gnomAD 1-161323622-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.76
- MetaLR 0.90
- MetaSVM 1.00
- CADD 22.60
- PolyPhen-2 0.44
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available