A10T (p.Ala10Thr) variant of CDH1 (Cadherin-1)
A10T (p.Ala10Thr) 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 diffuse gastric adenocarcinoma; Hereditary cancer-predisposing syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- rs1053572488
- ClinGen CA283273446
- ClinVar RCV000804491
- ClinVar RCV002440707
- Conflicting interpretations
- Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.12
- MetaLR 0.11
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.07
- MutPred 0.49
- ClinVar: Conflicting classifications of pathogenicity (Hereditary diffuse gastric adenocarcinoma; Hereditary cancer-pre)
- EBI: Likely benign
- UniProt: Likely benign
- 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)