T58K (p.Thr58Lys) variant of COL11A1 (Collagen alpha-1(XI) chain)
T58K (p.Thr58Lys) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
T58K (p.Thr58Lys) variant details
- p.Thr58Lys
- rs770162224
- ClinGen CA341168748
- cosmic curated COSV62194
- ClinVar RCV002013056
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.00
- MetaSVM -0.80
- PolyPhen-2 0.20
- SIFT 0.89
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available