D92E (p.Asp92Glu) variant of CHM (P24386)
D92E (p.Asp92Glu) in CHM (P24386) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
D92E (p.Asp92Glu) variant details
- p.Asp92Glu
- rs770650130
- ExAC rs770650130
- gnomAD rs770650130
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.20
- MetaLR 0.24
- MetaSVM -0.81
- PolyPhen-2 0.05
- SIFT 0.14
- EVE 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available