A40V (p.Ala40Val) variant of RECQL4 (ATP-dependent DNA helicase Q4)
A40V (p.Ala40Val) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs1320945281
- ClinGen CA372692804
- ClinVar RCV001910753
- gnomAD rs1320945281
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 24.90
- PolyPhen-2 0.93
- SIFT 0.14
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)