R34L (p.Arg34Leu) variant of PALB2 (Partner and localizer of BRCA2)
R34L (p.Arg34Leu) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- rs144944814
- ClinGen CA196241
- ClinVar RCV000166587
- ClinVar RCV000456690
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.15
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-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)