T20I (p.Thr20Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
T20I (p.Thr20Ile) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T20I (p.Thr20Ile) variant details
- p.Thr20Ile
- TOPMed rs1284115273
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available