H6T (p.His6Thr) variant of AGRN (Agrin)
H6T (p.His6Thr) in AGRN (Agrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
H6T (p.His6Thr) variant details
- p.His6Thr
- gnomAD 1-1020185-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 18.30
- Population evidence available
- Structural context available
- Literature evidence available