D30N (p.Asp30Asn) variant of RECQL4 (ATP-dependent DNA helicase Q4)
D30N (p.Asp30Asn) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- rs934908599
- ClinGen CA187691159
- ClinVar RCV000820994
- gnomAD rs934908599
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.62
- CADD 25.70
- 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 Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)