H134P (p.His134Pro) variant of COMP (P49747)
H134P (p.His134Pro) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
H134P (p.His134Pro) variant details
- p.His134Pro
- Ensembl rs1601058751
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 24.00
- PolyPhen-2 0.32
- SIFT 0.23
- Population evidence available
- Structural context available