Q54H (p.Gln54His) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Q54H (p.Gln54His) 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 Baller-Gerold syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q54H (p.Gln54His) variant details
- p.Gln54His
- rs1815354847
- ClinGen CA372692654
- ClinVar RCV002966201
- ClinVar RCV005473270
- Uncertain significance
- Baller-Gerold syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 10.60
- PolyPhen-2 0.03
- SIFT 0.15
- ClinVar: Uncertain significance (Baller-Gerold syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance (in dbSNP:rs35198096)
- UniProt: Uncertain significance (in dbSNP:rs35198096)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)