P115R (p.Pro115Arg) variant of COMP (P49747)
P115R (p.Pro115Arg) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P115R (p.Pro115Arg) variant details
- p.Pro115Arg
- ExAC rs761783627
- TOPMed rs761783627
- gnomAD rs761783627
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available