A13V (p.Ala13Val) variant of RECQL4 (ATP-dependent DNA helicase Q4)
A13V (p.Ala13Val) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs1489214833
- ClinGen CA372693877
- ClinVar RCV000824127
- TOPMed rs1489214833
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 16.30
- PolyPhen-2 0.65
- SIFT 0.27
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)