S7T (p.Ser7Thr) variant of CDH1 (Cadherin-1)
S7T (p.Ser7Thr) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S7T (p.Ser7Thr) variant details
- p.Ser7Thr
- rs1310934198
- ClinGen CA396451307
- ClinVar RCV001014436
- ClinVar RCV001035280
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 0.04
- SIFT 0.49
- MutPred 0.43
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)