G55R (p.Gly55Arg) variant of PRKG1 (cGMP-dependent protein kinase 1)
G55R (p.Gly55Arg) 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 and structural context.
G55R (p.Gly55Arg) variant details
- p.Gly55Arg
- ExAC rs745828304
- gnomAD rs745828304
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- MetaLR 0.19
- MetaSVM -0.87
- CADD 23.30
- SIFT 0.25
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available