L13P (p.Leu13Pro) variant of COL1A2 (Collagen alpha-2(I) chain)
L13P (p.Leu13Pro) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD rs1232932107
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.48
- CADD 24.10
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available