P4L (p.Pro4Leu) variant of PALB2 (Partner and localizer of BRCA2)
P4L (p.Pro4Leu) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- rs45619737
- ClinGen CA288392
- ClinVar RCV000114464
- ClinVar RCV000116063
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.04
- CADD 15.40
- PolyPhen-2 0.05
- SIFT 0.13
- EBI: Likely benign
- UniProt: Likely benign
- 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)