H6R (p.His6Arg) variant of AGRN (Agrin)
H6R (p.His6Arg) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H6R (p.His6Arg) variant details
- p.His6Arg
- rs1644363278
- gnomAD 1-1020189-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.08
- MetaLR 0.12
- MetaSVM -1.00
- CADD 7.96
- PolyPhen-2 0.00
- SIFT 0.94
- Population evidence available
- Structural context available
- Literature evidence available