E12A (p.Glu12Ala) variant of PALB2 (Partner and localizer of BRCA2)
E12A (p.Glu12Ala) 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 0.31 / 1. The record also includes published literature and structural context.
E12A (p.Glu12Ala) variant details
- p.Glu12Ala
- rs876659744
- ClinGen CA10580060
- ClinVar RCV000213226
- ClinVar RCV001204816
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.12
- MetaLR 0.03
- MetaSVM -0.99
- PolyPhen-2 0.01
- SIFT 0.46
- MutPred 0.12
- 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)