P3T (p.Pro3Thr) variant of CDH1 (Cadherin-1)
P3T (p.Pro3Thr) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ovarian cancer; Familial cancer of breast; Hereditary cancer-predisposing syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
P3T (p.Pro3Thr) variant details
- p.Pro3Thr
- rs1064793079
- ClinGen CA396451215
- ClinVar RCV000773783
- ClinVar RCV005358006
- Uncertain significance
- Ovarian cancer; Familial cancer of breast; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- AlphaMissense 0.06
- MetaLR 0.09
- MetaSVM -0.99
- PolyPhen-2 0.01
- SIFT 0.03
- MutPred 0.37
- ClinVar: Uncertain significance (Ovarian cancer; Familial cancer of breast; Hereditary cancer-pre)
- 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)