F2L (p.Phe2Leu) variant of COL1A1 (Collagen alpha-1(I) chain)
F2L (p.Phe2Leu) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
F2L (p.Phe2Leu) variant details
- p.Phe2Leu
- ExAC rs776596093
- TOPMed rs776596093
- gnomAD rs776596093
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.94
- CADD 29.20
- PolyPhen-2 0.97
- SIFT 0.17
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available