I19S (p.Ile19Ser) variant of PRKG1 (cGMP-dependent protein kinase 1)
I19S (p.Ile19Ser) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
I19S (p.Ile19Ser) variant details
- p.Ile19Ser
- gnomAD 10-51074664-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.41
- MetaLR 0.49
- MetaSVM 0.12
- CADD 32.00
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available