R79L (p.Arg79Leu) variant of COMP (P49747)
R79L (p.Arg79Leu) in COMP (P49747) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
R79L (p.Arg79Leu) variant details
- p.Arg79Leu
- 1000Genomes rs578030956
- ExAC rs578030956
- TOPMed rs578030956
- gnomAD rs578030956
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0603
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 2.24
- PolyPhen-2 0.05
- SIFT 0.15
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available