H53Y (p.His53Tyr) variant of PRKG1 (cGMP-dependent protein kinase 1)
H53Y (p.His53Tyr) 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.
H53Y (p.His53Tyr) variant details
- p.His53Tyr
- ESP rs377518710
- ExAC rs377518710
- TOPMed rs377518710
- gnomAD rs377518710
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- MetaLR 0.11
- MetaSVM -1.05
- CADD 22.70
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available