P56R (p.Pro56Arg) variant of PRKG1 (cGMP-dependent protein kinase 1)
P56R (p.Pro56Arg) 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.
P56R (p.Pro56Arg) variant details
- p.Pro56Arg
- ExAC rs779720584
- TOPMed rs779720584
- gnomAD rs779720584
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- MetaLR 0.21
- MetaSVM -0.76
- CADD 22.60
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available