V48L (p.Val48Leu) variant of COMP (P49747)
V48L (p.Val48Leu) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V48L (p.Val48Leu) variant details
- p.Val48Leu
- rs1418225765
- ClinGen CA404899744
- ClinVar RCV003117915
- TOPMed rs1418225765
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.15
- ESM-1b 0.41
- AlphaMissense 0.25
- CADD 16.40
- PolyPhen-2 0.08
- SIFT 0.93
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available