V100M (p.Val100Met) variant of COMP (P49747)
V100M (p.Val100Met) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V100M (p.Val100Met) variant details
- p.Val100Met
- cosmic curated COSV55873
- gnomAD rs1462257769
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 25.30
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available