T58M (p.Thr58Met) variant of COL11A1 (Collagen alpha-1(XI) chain)
T58M (p.Thr58Met) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T58M (p.Thr58Met) variant details
- p.Thr58Met
- rs770162224
- ClinGen CA975535
- cosmic curated COSV62181
- ClinVar RCV000519601
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.00
- MetaSVM -0.80
- CADD 22.70
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00029)
- Structural context available