D43D (p.Asp43Asp) variant of COL3A1 (Collagen alpha-1(III) chain)
D43D (p.Asp43Asp) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D43D (p.Asp43Asp) variant details
- p.Asp43Asp
- rs774591764
- gnomAD 2-188984809-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 11.10
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available