Q28H (p.Gln28His) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Q28H (p.Gln28His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Q28H (p.Gln28His) variant details
- p.Gln28His
- rs1586835584
- ClinGen CA372693606
- ClinVar RCV001040174
- ClinVar RCV001356618
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 26.90
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)