M1T (p.Met1Thr) variant of BLM (RecQ-like DNA helicase BLM)
M1T (p.Met1Thr) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bloom syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1057516593
- ClinGen CA16041764
- ClinVar RCV000412038
- ClinVar RCV003168589
- Uncertain significance
- Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- MetaLR 0.47
- MetaSVM -0.00
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 1.00
- ClinVar: Uncertain significance (Bloom syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)