V19I (p.Val19Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
V19I (p.Val19Ile) 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 0.11 / 1. The record also includes population frequency data and structural context.
V19I (p.Val19Ile) variant details
- p.Val19Ile
- cosmic curated COSV62180
- ExAC rs770851098
- gnomAD rs770851098
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.99
- CADD 5.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available