E28D (p.Glu28Asp) variant of PRKG1 (cGMP-dependent protein kinase 1)
E28D (p.Glu28Asp) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- gnomAD 10-50991462-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- MetaLR 0.20
- MetaSVM -0.96
- CADD 22.50
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available