D70G (p.Asp70Gly) variant of COMP (P49747)
D70G (p.Asp70Gly) in COMP (P49747) is a missense change. 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.
D70G (p.Asp70Gly) variant details
- p.Asp70Gly
- TOPMed rs1166200616
- gnomAD rs1166200616
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 25.90
- PolyPhen-2 0.67
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available