D64G (p.Asp64Gly) variant of BLM (RecQ-like DNA helicase BLM)
D64G (p.Asp64Gly) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
D64G (p.Asp64Gly) variant details
- p.Asp64Gly
- rs140382474
- ClinGen CA393839658
- ClinVar RCV000503861
- ESP rs140382474
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.16
- MetaLR 0.17
- MetaSVM -0.63
- PolyPhen-2 0.92
- SIFT 0.01
- MutPred 0.21
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available