S27P (p.Ser27Pro) variant of PRKG1 (cGMP-dependent protein kinase 1)
S27P (p.Ser27Pro) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S27P (p.Ser27Pro) variant details
- p.Ser27Pro
- gnomAD 10-50991457-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- MetaLR 0.15
- MetaSVM -0.99
- CADD 23.20
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available