E17del (p.Glu17del) variant of PRKG1 (cGMP-dependent protein kinase 1)
E17del (p.Glu17del) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E17del (p.Glu17del) variant details
- rs1842780873
- gnomAD 10-50991421-AAGG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 22.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available