D30G (p.Asp30Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
D30G (p.Asp30Gly) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D30G (p.Asp30Gly) variant details
- p.Asp30Gly
- rs2538129846
- ClinGen CA372693537
- ClinVar RCV003616867
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)