L41P (p.Leu41Pro) variant of RECQL4 (ATP-dependent DNA helicase Q4)
L41P (p.Leu41Pro) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- rs1259365630
- ClinGen CA372692798
- ClinVar RCV002814649
- TOPMed rs1259365630
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)