T104K (p.Thr104Lys) variant of COL11A1 (Collagen alpha-1(XI) chain)
T104K (p.Thr104Lys) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
T104K (p.Thr104Lys) variant details
- p.Thr104Lys
- gnomAD rs1324002400
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available