R86L (p.Arg86Leu) variant of COMP (P49747)
R86L (p.Arg86Leu) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R86L (p.Arg86Leu) variant details
- p.Arg86Leu
- 1000Genomes rs538226042
- ExAC rs538226042
- gnomAD rs538226042
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.28
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available