R57Q (p.Arg57Gln) variant of SMAD2 (SMAD family member 2)
R57Q (p.Arg57Gln) in SMAD2 (SMAD family member 2) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R57Q (p.Arg57Gln) variant details
- p.Arg57Gln
- rs2033448101
- ClinGen CA402502958
- NCI-TCGA Cosmic COSV5099
- cosmic curated COSV50994
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.18
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)