D6Y (p.Asp6Tyr) variant of RECQL4 (ATP-dependent DNA helicase Q4)
D6Y (p.Asp6Tyr) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D6Y (p.Asp6Tyr) variant details
- p.Asp6Tyr
- rs1009265867
- ClinGen CA372693990
- ClinVar RCV003616363
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 22.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)