H4del (p.His4del) variant of PLAU (P00749)
H4del (p.His4del) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H4del (p.His4del) variant details
- gnomAD 10-73911901-CATT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 13.60
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Literature evidence available