V7M (p.Val7Met) variant of RECQL4 (ATP-dependent DNA helicase Q4)
V7M (p.Val7Met) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V7M (p.Val7Met) variant details
- p.Val7Met
- gnomAD rs1429481203
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 14.20
- PolyPhen-2 0.29
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 4.2e-05)
- Structural context available