R37C (p.Arg37Cys) variant of PALB2 (Partner and localizer of BRCA2)
R37C (p.Arg37Cys) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R37C (p.Arg37Cys) variant details
- p.Arg37Cys
- rs200048921
- ClinGen CA348301
- NCI-TCGA Cosmic COSV9984
- ClinVar RCV000204029
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.28
- AlphaMissense 0.66
- MetaLR 0.17
- MetaSVM -0.87
- CADD 31.00
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)