P107T (p.Pro107Thr) variant of COL11A1 (Collagen alpha-1(XI) chain)
P107T (p.Pro107Thr) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P107T (p.Pro107Thr) variant details
- p.Pro107Thr
- cosmic curated COSV62179
- gnomAD rs1298293526
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 23.20
- PolyPhen-2 0.74
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available