F90I (p.Phe90Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
F90I (p.Phe90Ile) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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, published literature, and structural context.
F90I (p.Phe90Ile) variant details
- p.Phe90Ile
- rs373790561
- ClinGen CA975516
- ClinVar RCV003237211
- ClinVar RCV005429104
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.55
- CADD 24.50
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Stickler Syndrome. (PMID 20301479)