K49R (p.Lys49Arg) variant of RECQL4 (ATP-dependent DNA helicase Q4)
K49R (p.Lys49Arg) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K49R (p.Lys49Arg) variant details
- p.Lys49Arg
- rs1432766447
- ClinGen CA372692709
- ClinVar RCV002299576
- TOPMed rs1432766447
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 22.60
- PolyPhen-2 0.83
- SIFT 0.10
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)