L14P (p.Leu14Pro) variant of AGRN (Agrin)
L14P (p.Leu14Pro) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- rs1423967880
- gnomAD 1-1020213-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.39
- MetaLR 0.56
- MetaSVM -0.06
- CADD 25.20
- PolyPhen-2 0.96
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available