P109L (p.Pro109Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
P109L (p.Pro109Leu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.81 / 1. The record also includes structural context.
P109L (p.Pro109Leu) variant details
- p.Pro109Leu
- rs140120720
- ClinGen CA384525359
- ClinVar RCV002995038
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- AlphaMissense 0.41
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available