I21T (p.Ile21Thr) variant of COL3A1 (Collagen alpha-1(III) chain)
I21T (p.Ile21Thr) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I21T (p.Ile21Thr) variant details
- p.Ile21Thr
- TOPMed rs1296337954
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.23
- AlphaMissense 0.30
- MetaLR 0.54
- MetaSVM -0.19
- CADD 22.60
- PolyPhen-2 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available