E13K (p.Glu13Lys) variant of PALB2 (Partner and localizer of BRCA2)
E13K (p.Glu13Lys) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- rs373287455
- ClinGen CA299802
- ClinVar RCV000160873
- ClinVar RCV000197594
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.11
- AlphaMissense 0.44
- MetaLR 0.13
- MetaSVM -0.82
- CADD 31.00
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- 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)