I33V (p.Ile33Val) variant of PRKG1 (cGMP-dependent protein kinase 1)
I33V (p.Ile33Val) 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.
I33V (p.Ile33Val) variant details
- p.Ile33Val
- gnomAD 10-50991475-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- MetaLR 0.21
- MetaSVM -0.83
- CADD 22.40
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available