R53W (p.Arg53Trp) variant of COMP (P49747)
R53W (p.Arg53Trp) in COMP (P49747) is a missense change. 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.
R53W (p.Arg53Trp) variant details
- p.Arg53Trp
- TOPMed rs866529712
- gnomAD rs866529712
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 23.80
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the East Asian population (allele frequency 8.1e-05)
- Structural context available