L13R (p.Leu13Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
L13R (p.Leu13Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L13R (p.Leu13Arg) variant details
- p.Leu13Arg
- gnomAD rs1162410146
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.70
- CADD 32.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available