D6V (p.Asp6Val) variant of RECQL4 (ATP-dependent DNA helicase Q4)
D6V (p.Asp6Val) 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 population frequency data, published literature, and structural context.
D6V (p.Asp6Val) variant details
- p.Asp6Val
- rs1815445943
- ClinGen CA372693984
- ClinVar RCV001952916
- Ensembl rs1815445943
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 22.50
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)