R37H (p.Arg37His) variant of PALB2 (Partner and localizer of BRCA2)
R37H (p.Arg37His) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R37H (p.Arg37His) variant details
- p.Arg37His
- rs202194596
- ClinGen CA288386
- NCI-TCGA Cosmic COSV5516
- ClinVar RCV000114460
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.16
- CADD 24.40
- PolyPhen-2 0.47
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. (PMID 28319063)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)