P100L (p.Pro100Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
P100L (p.Pro100Leu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P100L (p.Pro100Leu) variant details
- p.Pro100Leu
- ExAC rs763903953
- gnomAD rs763903953
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.29
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.82
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available