R40L (p.Arg40Leu) variant of SDHC (Q99643)
R40L (p.Arg40Leu) 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 0.48 / 1. The record also includes population frequency data and structural context.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- ExAC rs772450693
- TOPMed rs772450693
- gnomAD rs772450693
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.46
- MetaLR 0.70
- MetaSVM 0.10
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available