D42D (p.Asp42Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
D42D (p.Asp42Asp) in COL4A3 (Collagen alpha-3(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D42D (p.Asp42Asp) variant details
- p.Asp42Asp
- rs369251968
- gnomAD 2-227238006-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0808
- CADD 0.03
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available
- Literature evidence available