D44Y (p.Asp44Tyr) variant of BLM (RecQ-like DNA helicase BLM)
D44Y (p.Asp44Tyr) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D44Y (p.Asp44Tyr) variant details
- p.Asp44Tyr
- rs1249086421
- ClinGen CA393839400
- ClinVar RCV001958283
- gnomAD rs1249086421
- Uncertain significance
- Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.09
- CADD 18.90
- PolyPhen-2 0.36
- SIFT 0.07
- ClinVar: Uncertain significance (Bloom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- 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)