L13P (p.Leu13Pro) variant of CDH1 (Cadherin-1)
L13P (p.Leu13Pro) in CDH1 (Cadherin-1) 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 0.38 / 1. The record also includes published literature and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- rs2152113978
- ClinGen CA396451393
- ClinVar RCV003460367
- Ensembl rs2152113978
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.23
- MetaLR 0.23
- MetaSVM -0.78
- PolyPhen-2 0.95
- SIFT 0.02
- MutPred 0.80
- 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)