R38K (p.Arg38Lys) variant of PRKG1 (cGMP-dependent protein kinase 1)
R38K (p.Arg38Lys) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R38K (p.Arg38Lys) variant details
- p.Arg38Lys
- gnomAD 10-50991491-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- MetaLR 0.15
- MetaSVM -0.86
- CADD 22.70
- SIFT 0.12
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available