K66E (p.Lys66Glu) variant of CHAMP1 (Q96JM3)
K66E (p.Lys66Glu) in CHAMP1 (Q96JM3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K66E (p.Lys66Glu) variant details
- p.Lys66Glu
- ExAC rs781942990
- TOPMed rs781942990
- gnomAD rs781942990
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.01
- MetaSVM -0.70
- CADD 24.80
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available