T18A (p.Thr18Ala) variant of COL11A1 (Collagen alpha-1(XI) chain)
T18A (p.Thr18Ala) 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 0.16 / 1. The record also includes population frequency data and structural context.
T18A (p.Thr18Ala) variant details
- p.Thr18Ala
- rs114630202
- ClinGen CA975585
- ClinVar RCV001772714
- 1000Genomes rs114630202
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available