G148V (p.Gly148Val) variant of COMP (P49747)
G148V (p.Gly148Val) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G148V (p.Gly148Val) variant details
- p.Gly148Val
- gnomAD rs1338125544
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available