Q21R (p.Gln21Arg) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Q21R (p.Gln21Arg) 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 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
Q21R (p.Gln21Arg) variant details
- p.Gln21Arg
- rs2130745502
- ClinGen CA372693731
- ClinVar RCV002005068
- Ensembl rs2130745502
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0592
- CADD 0.66
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)