V1666I (p.Val1666Ile) variant of AGRN (Agrin)
V1666I (p.Val1666Ile) 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 0.34 / 1. The record also includes population frequency data and published literature.
V1666I (p.Val1666Ile) variant details
- p.Val1666Ile
- rs17160775
- UniProt VAR 048966
- Benign
- Congenital myasthenic syndrome 8; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.19
- MetaLR 0.00
- MetaSVM -1.10
- CADD 17.30
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Benign (Congenital myasthenic syndrome 8; not specified; not provided)
- UniProt: Benign (in dbSNP:rs17160775)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)