E728V (p.Glu728Val) variant of AGRN (Agrin)
E728V (p.Glu728Val) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Congenital myasthenic syndrome 8; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
E728V (p.Glu728Val) variant details
- p.Glu728Val
- rs113288277
- UniProt VAR 068729
- Benign
- Congenital myasthenic syndrome 8; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.23
- MetaLR 0.01
- MetaSVM -1.20
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Benign (Congenital myasthenic syndrome 8; not specified; not provided)
- UniProt: Benign (in dbSNP:rs113288277)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. (PMID 18414213)