Y42C (p.Tyr42Cys) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Y42C (p.Tyr42Cys) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Y42C (p.Tyr42Cys) variant details
- p.Tyr42Cys
- rs1416508252
- ClinGen CA372692789
- ClinVar RCV001867498
- gnomAD rs1416508252
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)