P50H (p.Pro50His) variant of PRKG1 (cGMP-dependent protein kinase 1)
P50H (p.Pro50His) 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, published literature, and structural context.
P50H (p.Pro50His) variant details
- p.Pro50His
- gnomAD 10-50991527-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- MetaLR 0.18
- MetaSVM -0.82
- CADD 24.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available