T25I (p.Thr25Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
T25I (p.Thr25Ile) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- TOPMed rs1674856297
- gnomAD rs1674856297
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available