P7Q (p.Pro7Gln) variant of AGRN (Agrin)
P7Q (p.Pro7Gln) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- gnomAD 1-1020192-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.19
- MetaLR 0.25
- MetaSVM -0.98
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available