L638P (p.Leu638Pro) variant of RECQL4 (ATP-dependent DNA helicase Q4)
L638P (p.Leu638Pro) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L638P (p.Leu638Pro) variant details
- p.Leu638Pro
- rs977450143
- ClinGen CA187684587
- ClinVar RCV001048469
- TOPMed rs977450143
- Likely pathogenic
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Baller-Gerold syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)