L13P (p.Leu13Pro) variant of COL2A1 (Collagen alpha-1(II) chain)
L13P (p.Leu13Pro) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD rs1162410146
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.75
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.04
- Population evidence available
- Structural context available