V56I (p.Val56Ile) variant of COL2A1 (Collagen alpha-1(II) chain)
V56I (p.Val56Ile) in COL2A1 (Collagen alpha-1(II) 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 0.36 / 1. The record also includes population frequency data and structural context.
V56I (p.Val56Ile) variant details
- p.Val56Ile
- rs1940157547
- ClinGen CA384526414
- ClinVar RCV002009663
- gnomAD rs1940157547
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.15
- CADD 21.70
- PolyPhen-2 0.12
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available