R86Q (p.Arg86Gln) variant of COMP (P49747)
R86Q (p.Arg86Gln) 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 0.30 / 1. The record also includes population frequency data and structural context.
R86Q (p.Arg86Gln) variant details
- p.Arg86Gln
- rs538226042
- ClinGen CA404898797
- ClinVar RCV003690399
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available