P124L (p.Pro124Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
P124L (p.Pro124Leu) 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 0.58 / 1. The record also includes population frequency data and structural context.
P124L (p.Pro124Leu) variant details
- p.Pro124Leu
- ExAC rs754127735
- TOPMed rs754127735
- gnomAD rs754127735
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.47
- CADD 24.40
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available