T57A (p.Thr57Ala) variant of COL11A1 (Collagen alpha-1(XI) chain)
T57A (p.Thr57Ala) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T57A (p.Thr57Ala) variant details
- p.Thr57Ala
- ExAC rs768163272
- gnomAD rs768163272
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available