K49Q (p.Lys49Gln) variant of RECQL4 (ATP-dependent DNA helicase Q4)
K49Q (p.Lys49Gln) 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 Inborn genetic diseases; not provided; Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
K49Q (p.Lys49Gln) variant details
- p.Lys49Gln
- rs1046890336
- ClinGen CA16612291
- ClinVar RCV000460578
- ClinVar RCV001584145
- Uncertain significance
- Inborn genetic diseases; not provided; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 23.70
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)