S2R (p.Ser2Arg) variant of PRKG1 (cGMP-dependent protein kinase 1)
S2R (p.Ser2Arg) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- gnomAD 10-50991384-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- MetaLR 0.22
- MetaSVM -0.83
- CADD 20.20
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available