R25W (p.Arg25Trp) variant of PRKG1 (cGMP-dependent protein kinase 1)
R25W (p.Arg25Trp) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- gnomAD 10-50991451-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- MetaLR 0.27
- MetaSVM -0.40
- CADD 24.40
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available