D7Y (p.Asp7Tyr) variant of PRKG1 (cGMP-dependent protein kinase 1)
D7Y (p.Asp7Tyr) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D7Y (p.Asp7Tyr) variant details
- p.Asp7Tyr
- ESP rs376397116
- ExAC rs376397116
- TOPMed rs376397116
- gnomAD rs376397116
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- MetaLR 0.30
- MetaSVM -0.47
- CADD 26.10
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available