P87L (p.Pro87Leu) variant of COMP (P49747)
P87L (p.Pro87Leu) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P87L (p.Pro87Leu) variant details
- p.Pro87Leu
- TOPMed rs1315130781
- gnomAD rs1315130781
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.37
- ESM-1b 0.93
- AlphaMissense 0.11
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available