p.Ser51 Val52insLeuTrpValGlyLysV variant of PRKG1 (cGMP-dependent protein kinase 1)
p.Ser51 Val52insLeuTrpValGlyLysV in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser51 Val52insLeuTrpValGlyLysV variant details
- gnomAD 10-51074743-G-GCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available