C11Y (p.Cys11Tyr) variant of PALB2 (Partner and localizer of BRCA2)
C11Y (p.Cys11Tyr) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
C11Y (p.Cys11Tyr) variant details
- p.Cys11Tyr
- rs750720488
- ClinGen CA395141091
- ClinVar RCV003607165
- ExAC rs750720488
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.06
- MutPred 0.20
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)