V31L (p.Val31Leu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
V31L (p.Val31Leu) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V31L (p.Val31Leu) variant details
- p.Val31Leu
- TOPMed rs978982532
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available