Q6R (p.Gln6Arg) variant of BLM (RecQ-like DNA helicase BLM)
Q6R (p.Gln6Arg) 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 0.22 / 1. The record also includes population frequency data and structural context.
Q6R (p.Gln6Arg) variant details
- p.Gln6Arg
- gnomAD rs1248128883
- Uncertain significance
- Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.06
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.69
- CADD 21.20
- PolyPhen-2 0.18
- ClinVar: Uncertain significance (Bloom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available