G45D (p.Gly45Asp) variant of COL4A4 (Collagen alpha-4(IV) chain)
G45D (p.Gly45Asp) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- rs1308858968
- gnomAD 2-227010365-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 9.28
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available