H6Q (p.His6Gln) variant of AGRN (Agrin)
H6Q (p.His6Gln) 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.
H6Q (p.His6Gln) variant details
- p.His6Gln
- gnomAD 1-1020190-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.19
- MetaLR 0.19
- MetaSVM -0.92
- CADD 9.53
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available