S27A (p.Ser27Ala) variant of PRKG1 (cGMP-dependent protein kinase 1)
S27A (p.Ser27Ala) 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.
S27A (p.Ser27Ala) variant details
- p.Ser27Ala
- gnomAD 10-50991457-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- MetaLR 0.10
- MetaSVM -1.02
- CADD 21.30
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available