L11Q (p.Leu11Gln) variant of RECQL4 (ATP-dependent DNA helicase Q4)
L11Q (p.Leu11Gln) 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 0.91 / 1. The record also includes published literature and structural context.
L11Q (p.Leu11Gln) variant details
- p.Leu11Gln
- rs1815439152
- ClinGen CA372693910
- ClinVar RCV003616848
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)