L9H (p.Leu9His) variant of PALB2 (Partner and localizer of BRCA2)
L9H (p.Leu9His) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
L9H (p.Leu9His) variant details
- p.Leu9His
- rs515726092
- ClinGen CA269558
- ClinVar RCV001030104
- Ensembl rs515726092
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.48
- MetaLR 0.13
- MetaSVM -0.76
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.12
- EBI: Likely benign
- UniProt: Likely benign
- 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)