V7L (p.Val7Leu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
V7L (p.Val7Leu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- gnomAD rs1429481203
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 5.50
- PolyPhen-2 0.05
- SIFT 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.2e-05)
- Structural context available