E31K (p.Glu31Lys) variant of PRKG1 (cGMP-dependent protein kinase 1)
E31K (p.Glu31Lys) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PRKG1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs1353068439
- ClinGen CA376825549
- ClinVar RCV003402476
- gnomAD rs1353068439
- Uncertain significance
- PRKG1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- MetaLR 0.18
- MetaSVM -0.89
- CADD 22.90
- SIFT 0.03
- ClinVar: Uncertain significance (PRKG1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available