L76F (p.Leu76Phe) variant of COL2A1 (Collagen alpha-1(II) chain)
L76F (p.Leu76Phe) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L76F (p.Leu76Phe) variant details
- p.Leu76Phe
- gnomAD rs1940154691
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.15
- CADD 23.60
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available