L14Q (p.Leu14Gln) variant of AGRN (Agrin)
L14Q (p.Leu14Gln) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- gnomAD 1-1020213-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.29
- MetaLR 0.51
- MetaSVM -0.51
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available