V100E (p.Val100Glu) variant of COMP (P49747)
V100E (p.Val100Glu) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V100E (p.Val100Glu) variant details
- p.Val100Glu
- ExAC rs764598641
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 23.80
- PolyPhen-2 0.15
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available