R5P (p.Arg5Pro) variant of SMO (Protein smoothened)
R5P (p.Arg5Pro) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R5P (p.Arg5Pro) variant details
- p.Arg5Pro
- rs1406355067
- ClinGen CA369234511
- ClinVar RCV002920074
- TOPMed rs1406355067
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.47
- MetaLR 0.41
- MetaSVM -0.07
- CADD 26.40
- PolyPhen-2 0.86
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)