G55D (p.Gly55Asp) variant of PRKG1 (cGMP-dependent protein kinase 1)
G55D (p.Gly55Asp) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G55D (p.Gly55Asp) variant details
- p.Gly55Asp
- gnomAD 10-50991542-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- MetaLR 0.20
- MetaSVM -0.85
- CADD 22.60
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available