D30H (p.Asp30His) variant of RECQL4 (ATP-dependent DNA helicase Q4)
D30H (p.Asp30His) 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 0.66 / 1. The record also includes published literature and structural context.
D30H (p.Asp30His) variant details
- p.Asp30His
- rs934908599
- ClinGen CA372693545
- ClinVar RCV003616693
- ClinVar RCV005475432
- Uncertain significance
- Inborn genetic diseases; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 0.62
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Baller-Gerold syndrome)
- 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)