T10M (p.Thr10Met) variant of COL11A1 (Collagen alpha-1(XI) chain)
T10M (p.Thr10Met) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T10M (p.Thr10Met) variant details
- p.Thr10Met
- rs1024598882
- NCI-TCGA Cosmic COSV6217
- cosmic curated COSV62176
- Ensembl rs1024598882
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available