R5C (p.Arg5Cys) variant of SMO (Protein smoothened)
R5C (p.Arg5Cys) in SMO (Protein smoothened) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs1793442337
- ClinGen CA369234506
- ClinVar RCV004461984
- Ensembl rs1793442337
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.45
- MetaLR 0.41
- MetaSVM -0.11
- CADD 26.70
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)