F4L (p.Phe4Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
F4L (p.Phe4Leu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- ExAC rs762106932
- TOPMed rs762106932
- gnomAD rs762106932
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.39
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available