A2V (p.Ala2Val) variant of EPCAM (P16422)
A2V (p.Ala2Val) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Lynch syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs201402370
- ClinGen CA287883
- ClinVar RCV000115772
- ClinVar RCV000664270
- Benign/Likely benign
- not specified; not provided; Lynch syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.40
- MetaLR 0.42
- MetaSVM -0.54
- CADD 20.40
- PolyPhen-2 0.33
- SIFT 0.10
- ClinVar: Benign/Likely benign (not specified; not provided; Lynch syndrome 8)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.03)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Lynch Syndrome. (PMID 20301390)