R141L (p.Arg141Leu) variant of COMP (P49747)
R141L (p.Arg141Leu) 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.
R141L (p.Arg141Leu) variant details
- p.Arg141Leu
- ExAC rs762894659
- TOPMed rs762894659
- gnomAD rs762894659
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.47
- ESM-1b 0.07
- AlphaMissense 0.17
- CADD 26.30
- PolyPhen-2 0.66
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available