K14E (p.Lys14Glu) variant of PALB2 (Partner and localizer of BRCA2)
K14E (p.Lys14Glu) 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 population frequency data, published literature, and structural context.
K14E (p.Lys14Glu) variant details
- p.Lys14Glu
- rs786202029
- ClinGen CA191437
- ClinVar RCV000164630
- ClinVar RCV000693912
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.11
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -0.95
- CADD 31.00
- PolyPhen-2 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)