E13V (p.Glu13Val) variant of PALB2 (Partner and localizer of BRCA2)
E13V (p.Glu13Val) 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 Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E13V (p.Glu13Val) variant details
- p.Glu13Val
- rs876658288
- ClinGen CA395141051
- ClinVar RCV001338033
- Ensembl rs876658288
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.10
- AlphaMissense 0.74
- MetaLR 0.12
- MetaSVM -0.82
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)