E29del (p.Glu29del) variant of COL3A1 (Collagen alpha-1(III) chain)
E29del (p.Glu29del) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E29del (p.Glu29del) variant details
- rs1559052566
- gnomAD 2-188984764-TGAA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available