E32A (p.Glu32Ala) variant of PRKG1 (cGMP-dependent protein kinase 1)
E32A (p.Glu32Ala) 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.
E32A (p.Glu32Ala) variant details
- p.Glu32Ala
- gnomAD 10-50991473-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- MetaLR 0.25
- MetaSVM -0.60
- CADD 23.30
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available