H134Y (p.His134Tyr) variant of COMP (P49747)
H134Y (p.His134Tyr) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H134Y (p.His134Tyr) variant details
- p.His134Tyr
- Ensembl rs2055193156
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.90
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available