W14L (p.Trp14Leu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
W14L (p.Trp14Leu) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
W14L (p.Trp14Leu) variant details
- p.Trp14Leu
- Ensembl rs1815435906
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 23.70
- PolyPhen-2 0.32
- SIFT 0.00
- Population evidence available
- Structural context available