Q36R (p.Gln36Arg) variant of PALB2 (Partner and localizer of BRCA2)
Q36R (p.Gln36Arg) 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 0.40 / 1. The record also includes published literature and structural context.
Q36R (p.Gln36Arg) variant details
- p.Gln36Arg
- rs2142459764
- ClinGen CA395139581
- ClinVar RCV004500004
- ClinVar RCV005065158
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.22
- MetaLR 0.10
- MetaSVM -0.97
- PolyPhen-2 0.99
- SIFT 0.09
- EVE 0.69
- 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)