A40T (p.Ala40Thr) variant of RECQL4 (ATP-dependent DNA helicase Q4)
A40T (p.Ala40Thr) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- rs2538128894
- ClinGen CA372693351
- ClinVar RCV003508325
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 34.00
- PolyPhen-2 0.91
- SIFT 0.29
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)