E16Q (p.Glu16Gln) variant of PRKG1 (cGMP-dependent protein kinase 1)
E16Q (p.Glu16Gln) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- rs757672025
- gnomAD 10-51074636-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.23
- MetaLR 0.25
- MetaSVM -0.77
- CADD 25.00
- PolyPhen-2 0.50
- SIFT 0.06
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Literature evidence available