M74V (p.Met74Val) variant of COMP (P49747)
M74V (p.Met74Val) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
M74V (p.Met74Val) variant details
- p.Met74Val
- TOPMed rs1392053295
- gnomAD rs1392053295
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available