L35P (p.Leu35Pro) variant of PALB2 (Partner and localizer of BRCA2)
L35P (p.Leu35Pro) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PALB2-related cancer predisposition. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L35P (p.Leu35Pro) variant details
- p.Leu35Pro
- rs141047069
- ClinGen CA279502031
- ClinVar RCV000813912
- ClinVar RCV002397684
- Uncertain significance
- PALB2-related cancer predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.35
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (PALB2-related cancer predisposition)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. (PMID 28319063)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)