R11S (p.Arg11Ser) variant of SDHC (Q99643)
R11S (p.Arg11Ser) in SDHC (Q99643) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R11S (p.Arg11Ser) variant details
- p.Arg11Ser
- ExAC rs759914119
- TOPMed rs759914119
- gnomAD rs759914119
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.79
- MetaLR 0.91
- MetaSVM 1.01
- CADD 29.60
- PolyPhen-2 0.70
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available