P5S (p.Pro5Ser) variant of PALB2 (Partner and localizer of BRCA2)
P5S (p.Pro5Ser) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs377085677
- ClinGen CA269492
- ClinVar RCV000114472
- ClinVar RCV000116068
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.03
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -0.94
- CADD 5.36
- PolyPhen-2 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-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)