L4V (p.Leu4Val) variant of RECQL4 (ATP-dependent DNA helicase Q4)
L4V (p.Leu4Val) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- TOPMed rs878854640
- gnomAD rs878854640
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 21.70
- PolyPhen-2 0.98
- SIFT 0.08
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available