T39I (p.Thr39Ile) variant of COL1A1 (Collagen alpha-1(I) chain)
T39I (p.Thr39Ile) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T39I (p.Thr39Ile) variant details
- p.Thr39Ile
- gnomAD rs1489797657
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.08
- ESM-1b 0.43
- AlphaMissense 0.14
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available