G30G (p.Gly30Gly) variant of COL4A3 (Collagen alpha-3(IV) chain)
G30G (p.Gly30Gly) in COL4A3 (Collagen alpha-3(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G30G (p.Gly30Gly) variant details
- p.Gly30Gly
- rs988459674
- gnomAD 2-227237970-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 11.00
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Literature evidence available