A86E (p.Ala86Glu) variant of CHAMP1 (Q96JM3)
A86E (p.Ala86Glu) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A86E (p.Ala86Glu) variant details
- p.Ala86Glu
- ESP rs139187778
- ExAC rs139187778
- TOPMed rs139187778
- gnomAD rs139187778
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.39
- MetaLR 0.01
- MetaSVM -0.87
- CADD 22.60
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available