Q54P (p.Gln54Pro) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Q54P (p.Gln54Pro) 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 0.34 / 1. The record also includes published literature and structural context.
Q54P (p.Gln54Pro) variant details
- p.Gln54Pro
- rs35198096
- ClinGen CA372692660
- ClinVar RCV002009954
- 1000Genomes rs35198096
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.07
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Benign (in dbSNP:rs35198096)
- UniProt: Benign (in dbSNP:rs35198096)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)