F90Y (p.Phe90Tyr) variant of COL11A1 (Collagen alpha-1(XI) chain)
F90Y (p.Phe90Tyr) 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; COL11A1-related disorder; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
F90Y (p.Phe90Tyr) variant details
- p.Phe90Tyr
- rs986681092
- ClinGen CA27756255
- ClinVar RCV001921258
- ClinVar RCV005238069
- Conflicting interpretations
- not provided; COL11A1-related disorder; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.14
- ESM-1b 0.42
- AlphaMissense 0.13
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (not provided; COL11A1-related disorder; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available