K10E (p.Lys10Glu) variant of PRKG1 (cGMP-dependent protein kinase 1)
K10E (p.Lys10Glu) 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.
K10E (p.Lys10Glu) variant details
- p.Lys10Glu
- gnomAD 10-50991406-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- MetaLR 0.12
- MetaSVM -0.94
- CADD 22.50
- SIFT 0.51
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available