P8L (p.Pro8Leu) variant of PALB2 (Partner and localizer of BRCA2)
P8L (p.Pro8Leu) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- rs150390726
- ClinGen CA299799
- ClinVar RCV000114527
- ClinVar RCV000160872
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.06
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.08
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-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)