A22P (p.Ala22Pro) variant of PALB2 (Partner and localizer of BRCA2)
A22P (p.Ala22Pro) 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 Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- rs1473970758
- ClinGen CA395139877
- ClinVar RCV001344066
- ClinVar RCV002368134
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.96
- MetaLR 0.13
- MetaSVM -0.90
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.81
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)