T36S (p.Thr36Ser) variant of BLM (RecQ-like DNA helicase BLM)
T36S (p.Thr36Ser) 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 0.43 / 1. The record also includes published literature and structural context.
T36S (p.Thr36Ser) variant details
- p.Thr36Ser
- rs1895599706
- ClinGen CA393839311
- ClinVar RCV001228750
- Ensembl rs1895599706
- Uncertain significance
- Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 0.16
- MetaLR 0.30
- MetaSVM -0.48
- PolyPhen-2 1.00
- SIFT 0.11
- MutPred 0.20
- ClinVar: Uncertain significance (Bloom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)