G20R (p.Gly20Arg) variant of COMP (P49747)
G20R (p.Gly20Arg) 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 0.41 / 1. The record also includes population frequency data and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs765574677
- ClinGen CA9316853
- ClinVar RCV001899562
- ExAC rs765574677
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 21.40
- PolyPhen-2 0.12
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available