R34C (p.Arg34Cys) variant of PALB2 (Partner and localizer of BRCA2)
R34C (p.Arg34Cys) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- rs373483056
- ClinGen CA191499
- ClinVar RCV000164663
- ClinVar RCV000199940
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.19
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)