R10P (p.Arg10Pro) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R10P (p.Arg10Pro) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R10P (p.Arg10Pro) variant details
- p.Arg10Pro
- TOPMed rs1001894022
- gnomAD rs1001894022
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 11.20
- PolyPhen-2 0.96
- SIFT 0.11
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available