A745V (p.Ala745Val) variant of AGRN (Agrin)
A745V (p.Ala745Val) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and published literature.
A745V (p.Ala745Val) variant details
- p.Ala745Val
- UniProt VAR 071368
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.93
- CADD 1.14
- PolyPhen-2 0.03
- SIFT 0.72
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. (PMID 24951643)