K18R (p.Lys18Arg) variant of PALB2 (Partner and localizer of BRCA2)
K18R (p.Lys18Arg) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as benign. 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.
K18R (p.Lys18Arg) variant details
- p.Lys18Arg
- rs138789658
- ClinGen CA161315
- ClinVar RCV000114647
- ClinVar RCV000121743
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.18
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.07
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. (PMID 28319063)
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)