W14G (p.Trp14Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
W14G (p.Trp14Gly) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
W14G (p.Trp14Gly) variant details
- p.Trp14Gly
- rs758579262
- ClinGen CA372693864
- ClinVar RCV002041836
- ClinVar RCV005722519
- Uncertain significance
- Baller-Gerold syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- AlphaMissense 0.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)