F137V (p.Phe137Val) variant of COMP (P49747)
F137V (p.Phe137Val) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F137V (p.Phe137Val) variant details
- p.Phe137Val
- gnomAD rs1444151131
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 24.20
- PolyPhen-2 0.41
- SIFT 0.09
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available