G81R (p.Gly81Arg) variant of COMP (P49747)
G81R (p.Gly81Arg) 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 0.23 / 1. The record also includes population frequency data and structural context.
G81R (p.Gly81Arg) variant details
- p.Gly81Arg
- gnomAD rs1475322123
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 7.05
- PolyPhen-2 0.03
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available