T57R (p.Thr57Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
T57R (p.Thr57Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
T57R (p.Thr57Arg) variant details
- p.Thr57Arg
- ExAC rs748922582
- gnomAD rs748922582
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 26.20
- PolyPhen-2 0.52
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available