H6P (p.His6Pro) variant of AGRN (Agrin)
H6P (p.His6Pro) in AGRN (Agrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H6P (p.His6Pro) variant details
- p.His6Pro
- gnomAD 1-1020188-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 21.50
- Population evidence available
- Structural context available
- Literature evidence available