P50S (p.Pro50Ser) variant of PRKG1 (cGMP-dependent protein kinase 1)
P50S (p.Pro50Ser) 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.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- gnomAD 10-50991526-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- MetaLR 0.15
- MetaSVM -0.82
- CADD 22.50
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available