G40D (p.Gly40Asp) variant of COL4A4 (Collagen alpha-4(IV) chain)
G40D (p.Gly40Asp) in COL4A4 (Collagen alpha-4(IV) chain) is a missense 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.
G40D (p.Gly40Asp) variant details
- p.Gly40Asp
- gnomAD 2-227010377-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 10.60
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available