E5K (p.Glu5Lys) variant of PRKG1 (cGMP-dependent protein kinase 1)
E5K (p.Glu5Lys) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- 1000Genomes rs200844105
- ESP rs200844105
- ExAC rs200844105
- TOPMed rs200844105
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- MetaLR 0.16
- MetaSVM -0.82
- CADD 23.60
- SIFT 0.03
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available