M1V (p.Met1Val) variant of EPCAM (P16422)
M1V (p.Met1Val) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of EPCAM-related disorder; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs752808238
- ClinGen CA1648796
- ClinVar RCV003164691
- ClinVar RCV003403838
- Likely pathogenic
- EPCAM-related disorder; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- MetaLR 0.53
- MetaSVM 0.09
- PolyPhen-2 0.92
- SIFT 0.00
- MutPred 1.00
- ClinVar: Likely pathogenic (EPCAM-related disorder; Familial cancer of breast)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)