G37R (p.Gly37Arg) variant of RAI1 (Retinoic acid-induced protein 1)
G37R (p.Gly37Arg) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; Smith-Magenis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G37R (p.Gly37Arg) variant details
- p.Gly37Arg
- rs201393598
- ClinGen CA8418043
- ClinVar RCV000502371
- ClinVar RCV001857156
- Conflicting interpretations
- Inborn genetic diseases; not specified; Smith-Magenis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.67
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; Smith-Magenis syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)