F71I (p.Phe71Ile) variant of BLM (RecQ-like DNA helicase BLM)
F71I (p.Phe71Ile) 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 Hereditary cancer-predisposing syndrome; Bloom syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
F71I (p.Phe71Ile) variant details
- p.Phe71Ile
- rs2151146855
- ClinGen CA393839762
- ClinVar RCV002814616
- ClinVar RCV004064867
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.33
- MetaLR 0.07
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.57
- MutPred 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; 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)