K16E (p.Lys16Glu) variant of PALB2 (Partner and localizer of BRCA2)
K16E (p.Lys16Glu) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K16E (p.Lys16Glu) variant details
- p.Lys16Glu
- rs1967230769
- ClinGen CA395141009
- ClinVar RCV001171433
- Ensembl rs1967230769
- Benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.07
- CADD 33.00
- PolyPhen-2 0.81
- SIFT 0.02
- ClinVar: Benign (not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available