F90L (p.Phe90Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
F90L (p.Phe90Leu) in COL11A1 (Collagen alpha-1(XI) 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 0.55 / 1. The record also includes population frequency data and structural context.
F90L (p.Phe90Leu) variant details
- p.Phe90Leu
- rs373790561
- ClinGen CA341168446
- ClinVar RCV003021746
- ESP rs373790561
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 24.50
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available