P30T (p.Pro30Thr) variant of CDH1 (Cadherin-1)
P30T (p.Pro30Thr) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- rs139866691
- ClinGen CA151524
- cosmic curated COSV10455
- ClinVar RCV000115864
- Benign
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.15
- MetaLR 0.55
- MetaSVM -0.32
- PolyPhen-2 0.99
- SIFT 0.36
- ClinVar: 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)