P466L (p.Pro466Leu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
P466L (p.Pro466Leu) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P466L (p.Pro466Leu) variant details
- p.Pro466Leu
- rs386833844
- ClinGen CA144325
- ClinVar RCV000049812
- ClinVar RCV000228610
- Pathogenic/Likely pathogenic
- not provided; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 24.70
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Baller-Gerold syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)