E13G (p.Glu13Gly) variant of PALB2 (Partner and localizer of BRCA2)
E13G (p.Glu13Gly) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- rs876658288
- ClinGen CA10580059
- ClinVar RCV000213589
- ClinVar RCV005090076
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.74
- MetaLR 0.12
- MetaSVM -0.82
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)