E35K (p.Glu35Lys) variant of PRKG1 (cGMP-dependent protein kinase 1)
E35K (p.Glu35Lys) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs372471361
- cosmic curated COSV10091
- ESP rs372471361
- gnomAD rs372471361
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- MetaLR 0.38
- MetaSVM -0.52
- CADD 24.90
- SIFT 0.50
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available