L21S (p.Leu21Ser) variant of PALB2 (Partner and localizer of BRCA2)
L21S (p.Leu21Ser) 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 Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L21S (p.Leu21Ser) variant details
- p.Leu21Ser
- rs769240800
- ClinGen CA395139891
- ClinVar RCV001030112
- ClinVar RCV002298850
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.18
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)