V31M (p.Val31Met) variant of RECQL4 (ATP-dependent DNA helicase Q4)
V31M (p.Val31Met) 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.
V31M (p.Val31Met) variant details
- p.Val31Met
- TOPMed rs978982532
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.06
- Population evidence available
- Structural context available