A23T (p.Ala23Thr) variant of COL11A1 (Collagen alpha-1(XI) chain)
A23T (p.Ala23Thr) 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 0.26 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs1386580787
- NCI-TCGA Cosmic COSV6218
- cosmic curated COSV62181
- TOPMed rs1386580787
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.40
- MetaLR 0.02
- MetaSVM -1.06
- CADD 19.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available