I143V (p.Ile143Val) variant of COMP (P49747)
I143V (p.Ile143Val) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I143V (p.Ile143Val) variant details
- p.Ile143Val
- ExAC rs776583689
- TOPMed rs776583689
- gnomAD rs776583689
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.93
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available