H90Y (p.His90Tyr) variant of COMP (P49747)
H90Y (p.His90Tyr) in COMP (P49747) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
H90Y (p.His90Tyr) variant details
- p.His90Tyr
- ExAC rs757546301
- TOPMed rs757546301
- gnomAD rs757546301
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 4.91
- PolyPhen-2 0.04
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available