Q34H (p.Gln34His) variant of PRKG1 (cGMP-dependent protein kinase 1)
Q34H (p.Gln34His) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q34H (p.Gln34His) variant details
- p.Gln34His
- gnomAD 10-51074692-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.20
- MetaLR 0.24
- MetaSVM -0.69
- CADD 23.90
- PolyPhen-2 0.31
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available