Q8L (p.Gln8Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
Q8L (p.Gln8Leu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data and structural context.
Q8L (p.Gln8Leu) variant details
- p.Gln8Leu
- gnomAD rs1940371665
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.26
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available