L27I (p.Leu27Ile) variant of BLM (RecQ-like DNA helicase BLM)
L27I (p.Leu27Ile) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data and structural context.
L27I (p.Leu27Ile) variant details
- p.Leu27Ile
- gnomAD rs1368566341
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.06
- AlphaMissense 0.07
- MetaLR 0.08
- MetaSVM -1.03
- CADD 21.20
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Bloom syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available