V33I (p.Val33Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
V33I (p.Val33Ile) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V33I (p.Val33Ile) variant details
- p.Val33Ile
- rs755307749
- ClinGen CA975576
- ClinVar RCV002049452
- ExAC rs755307749
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available