H53D (p.His53Asp) variant of PRKG1 (cGMP-dependent protein kinase 1)
H53D (p.His53Asp) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. 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.
H53D (p.His53Asp) variant details
- p.His53Asp
- ESP rs377518710
- ExAC rs377518710
- TOPMed rs377518710
- gnomAD rs377518710
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- MetaLR 0.12
- MetaSVM -1.01
- CADD 22.30
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available