T52M (p.Thr52Met) variant of RECQL4 (ATP-dependent DNA helicase Q4)
T52M (p.Thr52Met) 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 Inborn genetic diseases; not provided; Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T52M (p.Thr52Met) variant details
- p.Thr52Met
- rs878854641
- ClinGen CA10582573
- ClinVar RCV000228236
- ClinVar RCV003430785
- Uncertain significance
- Inborn genetic diseases; not provided; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)