P32Q (p.Pro32Gln) variant of COMP (P49747)
P32Q (p.Pro32Gln) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P32Q (p.Pro32Gln) variant details
- p.Pro32Gln
- ExAC rs754279636
- TOPMed rs754279636
- gnomAD rs754279636
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.70
- PolyPhen-2 0.46
- SIFT 0.40
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available