R42Q (p.Arg42Gln) variant of RAI1 (Retinoic acid-induced protein 1)
R42Q (p.Arg42Gln) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R42Q (p.Arg42Gln) variant details
- p.Arg42Gln
- rs200367247
- ClinGen CA8418050
- cosmic curated COSV55390
- ClinVar RCV001989601
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 8.3e-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)