L10V (p.Leu10Val) variant of AGRN (Agrin)
L10V (p.Leu10Val) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- gnomAD 1-1020200-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.16
- MetaLR 0.31
- MetaSVM -0.84
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available