G123S (p.Gly123Ser) variant of DDX41 (Q9UJV9)
G123S (p.Gly123Ser) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G123S (p.Gly123Ser) variant details
- p.Gly123Ser
- rs764853110
- ClinGen CA3585251
- ClinVar RCV003869822
- ClinVar RCV004573373
- Uncertain significance
- DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.17
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.31
- ClinVar: Uncertain significance (DDX41-related hematologic malignancy predisposition syndrome; In)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)