P4S (p.Pro4Ser) variant of PALB2 (Partner and localizer of BRCA2)
P4S (p.Pro4Ser) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- rs587782483
- ClinGen CA294407
- ClinVar RCV000131600
- ClinVar RCV000205368
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.04
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.06
- CADD 24.00
- PolyPhen-2 0.30
- 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)