R31Q (p.Arg31Gln) variant of ABL1 (Tyrosine-protein kinase ABL1)
R31Q (p.Arg31Gln) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Congenital heart defects and skeletal malformations syndrome; Inborn genetic dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- rs368476764
- ClinGen CA5285160
- cosmic curated COSV10810
- ClinVar RCV002098639
- Likely benign
- Congenital heart defects and skeletal malformations syndrome; Inborn genetic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.16
- MetaLR 0.10
- MetaSVM -0.98
- CADD 25.50
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Likely benign (Congenital heart defects and skeletal malformations syndrome; In)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00083)
- 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)