I21del (p.Ile21del) variant of COL3A1 (Collagen alpha-1(III) chain)
I21del (p.Ile21del) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I21del (p.Ile21del) variant details
- gnomAD 2-188974545-CTAT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 18.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available