H6Y (p.His6Tyr) variant of AGRN (Agrin)
H6Y (p.His6Tyr) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
H6Y (p.His6Tyr) variant details
- p.His6Tyr
- gnomAD 1-1020188-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.05
- MetaLR 0.14
- MetaSVM -0.88
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.87
- Population evidence available
- Structural context available
- Literature evidence available