P3R (p.Pro3Arg) variant of CDH1 (Cadherin-1)
P3R (p.Pro3Arg) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of CDH1-related diffuse gastric and lobular breast cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P3R (p.Pro3Arg) variant details
- p.Pro3Arg
- rs587782484
- ClinGen CA294410
- cosmic curated COSV99028
- ClinVar RCV000131602
- Likely benign
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- AlphaMissense 0.08
- MetaLR 0.11
- MetaSVM -1.00
- PolyPhen-2 0.91
- SIFT 0.00
- MutPred 0.40
- ClinVar: Likely benign (CDH1-related diffuse gastric and lobular breast cancer syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)