Q104H (p.Gln104His) variant of COMP (P49747)
Q104H (p.Gln104His) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q104H (p.Gln104His) variant details
- p.Gln104His
- ExAC rs753431683
- gnomAD rs753431683
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.20
- ESM-1b 0.48
- AlphaMissense 0.16
- CADD 19.20
- PolyPhen-2 0.14
- SIFT 0.02
- Population evidence available
- Structural context available