R24P (p.Arg24Pro) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R24P (p.Arg24Pro) 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 0.59 / 1. The record also includes population frequency data and structural context.
R24P (p.Arg24Pro) variant details
- p.Arg24Pro
- TOPMed rs1296633763
- gnomAD rs1296633763
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.1e-05)
- Structural context available