R44Q (p.Arg44Gln) variant of RAI1 (Retinoic acid-induced protein 1)
R44Q (p.Arg44Gln) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R44Q (p.Arg44Gln) variant details
- p.Arg44Gln
- rs149701833
- ClinGen CA8418053
- ClinVar RCV002385654
- ClinVar RCV003103643
- Benign/Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:LWK population (allele frequency 0.012)
- 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)