P20R (p.Pro20Arg) variant of SDHC (Q99643)
P20R (p.Pro20Arg) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
P20R (p.Pro20Arg) variant details
- p.Pro20Arg
- rs2102295625
- ClinGen CA343359546
- ClinVar RCV001763998
- ClinVar RCV003298982
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.07
- MetaLR 0.88
- MetaSVM 0.94
- PolyPhen-2 0.36
- SIFT 0.11
- EVE 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)