T58A (p.Thr58Ala) variant of COL11A1 (Collagen alpha-1(XI) chain)
T58A (p.Thr58Ala) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
T58A (p.Thr58Ala) variant details
- p.Thr58Ala
- ExAC rs779635348
- gnomAD rs779635348
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- ESM-1b 0.00
- AlphaMissense 0.06
- Structural context available