E27G (p.Glu27Gly) variant of PALB2 (Partner and localizer of BRCA2)
E27G (p.Glu27Gly) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- rs2142460509
- ClinGen CA395139757
- ClinVar RCV001875053
- ClinVar RCV006272460
- Uncertain significance
- not provided; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.83
- MetaLR 0.21
- MetaSVM -0.50
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (not provided; Familial cancer of breast)
- 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)