D63D (p.Asp63Asp) variant of COL3A1 (Collagen alpha-1(III) chain)
D63D (p.Asp63Asp) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D63D (p.Asp63Asp) variant details
- p.Asp63Asp
- gnomAD 2-188984869-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available