F99L (p.Phe99Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
F99L (p.Phe99Leu) 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 0.53 / 1. The record also includes structural context.
F99L (p.Phe99Leu) variant details
- p.Phe99Leu
- rs2102303756
- ClinGen CA341168049
- ClinVar RCV002028073
- Ensembl rs2102303756
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.04
- MetaSVM -1.09
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available