P48Q (p.Pro48Gln) variant of PRKG1 (cGMP-dependent protein kinase 1)
P48Q (p.Pro48Gln) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P48Q (p.Pro48Gln) variant details
- p.Pro48Gln
- cosmic curated COSV10091
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- MetaLR 0.26
- MetaSVM -0.70
- CADD 22.50
- SIFT 0.20
- Population evidence available
- Structural context available