P70S (p.Pro70Ser) variant of DDX41 (Q9UJV9)
P70S (p.Pro70Ser) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P70S (p.Pro70Ser) variant details
- p.Pro70Ser
- rs756008087
- ClinGen CA3585308
- ClinVar RCV003442718
- ClinVar RCV004572977
- Conflicting interpretations
- DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.05
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Conflicting classifications of pathogenicity (DDX41-related hematologic malignancy predisposition syndrome; In)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- 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)