K49N (p.Lys49Asn) variant of RECQL4 (ATP-dependent DNA helicase Q4)
K49N (p.Lys49Asn) 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; Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
K49N (p.Lys49Asn) variant details
- p.Lys49Asn
- rs1815360727
- ClinGen CA372692703
- ClinVar RCV001898495
- ClinVar RCV005262589
- Uncertain significance
- Inborn genetic diseases; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.88
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Baller-Gerold syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)