L93I (p.Leu93Ile) variant of COL2A1 (Collagen alpha-1(II) chain)
L93I (p.Leu93Ile) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L93I (p.Leu93Ile) variant details
- p.Leu93Ile
- TOPMed rs1940151567
- gnomAD rs1940151567
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.19
- CADD 21.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available