L48P (p.Leu48Pro) variant of RECQL4 (ATP-dependent DNA helicase Q4)
L48P (p.Leu48Pro) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- gnomAD rs1231871779
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available