R34H (p.Arg34His) variant of PALB2 (Partner and localizer of BRCA2)
R34H (p.Arg34His) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- rs144944814
- ClinGen CA164933
- NCI-TCGA Cosmic COSV5516
- ClinVar RCV000129692
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.14
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)