Q47R (p.Gln47Arg) variant of SDHD (O14521)
Q47R (p.Gln47Arg) in SDHD (O14521) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q47R (p.Gln47Arg) variant details
- p.Gln47Arg
- rs899706404
- ClinGen CA16605858
- ClinVar RCV001011433
- ClinVar RCV001813776
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.59
- AlphaMissense 0.06
- MetaLR 0.68
- MetaSVM -0.00
- CADD 23.70
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; not speci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)