L51M (p.Leu51Met) variant of COMP (P49747)
L51M (p.Leu51Met) in COMP (P49747) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L51M (p.Leu51Met) variant details
- p.Leu51Met
- gnomAD rs2055208145
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 24.30
- PolyPhen-2 0.94
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available