Y42H (p.Tyr42His) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Y42H (p.Tyr42His) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y42H (p.Tyr42His) variant details
- p.Tyr42His
- rs2538124704
- ClinGen CA372692792
- ClinVar RCV003616453
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 23.80
- PolyPhen-2 0.32
- 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)