R57Q (p.Arg57Gln) variant of PRKG1 (cGMP-dependent protein kinase 1)
R57Q (p.Arg57Gln) 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.
R57Q (p.Arg57Gln) variant details
- p.Arg57Gln
- gnomAD rs1233139477
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- MetaLR 0.18
- MetaSVM -0.65
- CADD 24.20
- SIFT 0.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available