Q12H (p.Gln12His) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Q12H (p.Gln12His) 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; Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q12H (p.Gln12His) variant details
- p.Gln12His
- rs2538134118
- ClinGen CA372693890
- ClinVar RCV002770901
- Uncertain significance
- Inborn genetic diseases; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 22.20
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00031)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)