Q36H (p.Gln36His) variant of PALB2 (Partner and localizer of BRCA2)
Q36H (p.Gln36His) 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 0.43 / 1. The record also includes published literature and structural context.
Q36H (p.Gln36His) variant details
- p.Gln36His
- rs1567224146
- ClinGen CA395139575
- ClinVar RCV003607896
- Ensembl rs1567224146
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.69
- MetaLR 0.14
- MetaSVM -0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Uncertain significance (Familial cancer of breast)
- 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)