Q28K (p.Gln28Lys) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Q28K (p.Gln28Lys) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q28K (p.Gln28Lys) variant details
- p.Gln28Lys
- rs794726912
- ClinGen CA16612304
- ClinVar RCV000477529
- Ensembl rs794726912
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- AlphaMissense 0.08
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)