L21V (p.Leu21Val) variant of CDH1 (Cadherin-1)
L21V (p.Leu21Val) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- rs863224729
- ClinGen CA10580066
- ClinVar RCV000222019
- ClinVar RCV000456561
- Uncertain significance
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- AlphaMissense 0.08
- MetaLR 0.11
- MetaSVM -1.01
- PolyPhen-2 0.01
- SIFT 0.44
- MutPred 0.37
- ClinVar: Uncertain significance (CDH1-related diffuse gastric and lobular breast cancer syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)