E21A (p.Glu21Ala) variant of PRKG1 (cGMP-dependent protein kinase 1)
E21A (p.Glu21Ala) in PRKG1 (cGMP-dependent protein kinase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E21A (p.Glu21Ala) variant details
- p.Glu21Ala
- gnomAD 10-50991437-AAG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available