T18N (p.Thr18Asn) variant of COL11A1 (Collagen alpha-1(XI) chain)
T18N (p.Thr18Asn) 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 0.25 / 1. The record also includes population frequency data and structural context.
T18N (p.Thr18Asn) variant details
- p.Thr18Asn
- rs2102453221
- ClinGen CA341159582
- ClinVar RCV003678521
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.03
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.66
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available