R8P (p.Arg8Pro) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R8P (p.Arg8Pro) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- rs896245546
- ClinGen CA187691313
- ClinVar RCV001985019
- TOPMed rs896245546
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)