D6N (p.Asp6Asn) variant of RECQL4 (ATP-dependent DNA helicase Q4)
D6N (p.Asp6Asn) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not specified; 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.
D6N (p.Asp6Asn) variant details
- p.Asp6Asn
- rs1009265867
- ClinGen CA187691321
- ClinVar RCV000807907
- ClinVar RCV001759546
- Uncertain significance
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 15.70
- PolyPhen-2 0.06
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)