D68D (p.Asp68Asp) variant of COL3A1 (Collagen alpha-1(III) chain)
D68D (p.Asp68Asp) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D68D (p.Asp68Asp) variant details
- p.Asp68Asp
- rs368299739
- gnomAD 2-188984884-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.169
- AlphaMissense 0.20
- MetaLR 0.06
- MetaSVM -0.96
- CADD 3.66
- PolyPhen-2 0.60
- SIFT 0.67
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available