D29E (p.Asp29Glu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
D29E (p.Asp29Glu) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- rs2130743879
- ClinGen CA372693549
- ClinVar RCV002882348
- Ensembl rs2130743879
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0821
- CADD 0.49
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.4e-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)